Canonical Allele Identifier: CA241005

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 194820
• ClinVar RCV Id: RCV000175281 ; RCV001145224 ; RCV001145223 ; RCV001239969 ; RCV001329599 ; RCV004537379
• dbSNP Id: rs200236654
• ExAC: 4:15542495 G / A
• gnomAD v2: 4-15542495-G-A
• gnomAD v3: 4-15540872-G-A
• gnomAD v4: 4-15540872-G-A
• MyVariant Identifiers: chr4:g.15542495G>A (hg19) ; chr4:g.15540872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15540872G>A , CM000666.2:g.15540872G>A	GRCh38
NC_000004.11:g.15542495G>A , CM000666.1:g.15542495G>A	GRCh37
NC_000004.10:g.15151593G>A	NCBI36
NG_013035.1:g.76007G>A , LRG_697:g.76007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2039G>A	ENSP00000374303.8:p.Arg680His
ENST00000424120.6:c.2039G>A MANE Select	ENSP00000403465.1:p.Arg680His
ENST00000503292.6:c.2039G>A	ENSP00000421809.1:p.Arg680His
ENST00000506643.5:c.1892G>A	ENSP00000422931.2:p.Arg631His
ENST00000634028.2:c.1892G>A	ENSP00000488669.2:p.Arg631His
ENST00000650860.2:c.1892G>A	ENSP00000498775.1:p.Arg631His
ENST00000674945.1:c.1892G>A	ENSP00000502333.1:p.Arg631His
ENST00000675619.1:n.118G>A
ENST00000676337.1:c.1892G>A	ENSP00000501728.1:p.Arg631His
ENST00000389652.9:c.1501G>A
ENST00000424120.5:c.2039G>A	ENSP00000403465.1:p.Arg680His
ENST00000503292.5:c.2039G>A	ENSP00000421809.1:p.Arg680His
ENST00000506643.4:c.367G>A
ENST00000513811.5:n.2219G>A
ENST00000634028.1:c.2022G>A	ENSP00000488669.1:n.2022G>A
NM_001080522.2:c.2039G>A , LRG_697t1:c.2039G>A	NP_001073991.2:p.Arg680His
XM_005248177.1:c.2039G>A	XP_005248234.1:p.Arg680His
XM_011513869.1:c.2039G>A	XP_011512171.1:p.Arg680His
XM_011513870.1:c.2039G>A	XP_011512172.1:p.Arg680His
XM_011513871.1:c.1892G>A	XP_011512173.1:p.Arg631His
XM_011513872.1:c.2039G>A	XP_011512174.1:p.Arg680His
XM_011513873.1:c.2039G>A	XP_011512175.1:p.Arg680His
XM_011513872.3:c.2039G>A	XP_011512174.1:p.Arg680His
XM_017008482.1:c.1892G>A	XP_016863971.1:p.Arg631His
XR_001741296.1:n.2239G>A
NM_001378615.1:c.2039G>A MANE Select	NP_001365544.1:p.Arg680His
NM_001378617.1:c.1892G>A	NP_001365546.1:p.Arg631His