ClinVar

NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)

Gene:

CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15563386 (on Assembly GRCh38)
• Chr4: 15565009 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)

HGVS:

• NC_000004.12:g.15563386G>A
• NG_013035.1:g.98521G>A
• NM_001080522.2:c.3046G>A
• NM_001378615.1:c.3046G>AMANE SELECT
• NM_001378617.1:c.2899G>A
• NP_001073991.2:p.Glu1016Lys
• NP_001365544.1:p.Glu1016Lys
• NP_001365546.1:p.Glu967Lys
• LRG_697t1:c.3046G>A
• LRG_697:g.98521G>A
• LRG_697p1:p.Glu1016Lys
• NC_000004.11:g.15565009G>A

This HGVS expression did not pass validation

Protein change:

E1016K

Links:

dbSNP: rs373960465

NCBI 1000 Genomes Browser:

rs373960465

Molecular consequence:

• NM_001080522.2:c.3046G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378615.1:c.3046G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378617.1:c.2899G>A - missense variant - [Sequence Ontology: SO:0001583]