ClinVar

NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)

Gene:

PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151675486 (on Assembly GRCh38)
• Chr7: 151372572 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)

HGVS:

• NC_000007.14:g.151675486C>A
• NG_007486.2:g.206746G>T
• NM_001040633.2:c.486G>T
• NM_001304527.2:c.246G>T
• NM_001363698.2:c.246G>T
• NM_016203.4:c.618G>TMANE SELECT
• NP_001035723.1:p.Pro162=
• NP_001291456.1:p.Pro82=
• NP_001350627.1:p.Pro82=
• NP_057287.2:p.Pro206=
• LRG_430t1:c.618G>T
• LRG_430:g.206746G>T
• LRG_430p1:p.Pro206=
• NC_000007.13:g.151372572C>A
• NG_007486.1:g.206745G>T
• NM_016203.3:c.618G>T
• c.618G>T
• p.Pro206Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs145827515

NCBI 1000 Genomes Browser:

rs145827515

Molecular consequence:

• NM_001040633.2:c.486G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304527.2:c.246G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363698.2:c.246G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016203.4:c.618G>T - synonymous variant - [Sequence Ontology: SO:0001819]