Canonical Allele Identifier: CA549894775

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1219185048
• gnomAD v2: 4-15560948-T-A
• MyVariant Identifiers: chr4:g.15560948T>A (hg19) ; chr4:g.15559325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15559325T>A , CM000666.2:g.15559325T>A	GRCh38
NC_000004.11:g.15560948T>A , CM000666.1:g.15560948T>A	GRCh37
NC_000004.10:g.15170046T>A	NCBI36
NG_013035.1:g.94460T>A , LRG_697:g.94460T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2922+68T>A	ENSP00000374303.8:n.2922+68T>A
ENST00000424120.6:c.2922+68T>A MANE Select	ENSP00000403465.1:n.2922+68T>A
ENST00000503292.6:c.2922+68T>A	ENSP00000421809.1:n.2922+68T>A
ENST00000506643.5:c.2775+68T>A	ENSP00000422931.2:n.2775+68T>A
ENST00000634028.2:c.2775+68T>A	ENSP00000488669.2:n.2775+68T>A
ENST00000650860.2:c.2775+68T>A	ENSP00000498775.1:n.2775+68T>A
ENST00000674945.1:c.2775+68T>A	ENSP00000502333.1:n.2775+68T>A
ENST00000675619.1:n.1001+68T>A
ENST00000675768.1:n.142+68T>A
ENST00000676337.1:c.2775+68T>A	ENSP00000501728.1:n.2775+68T>A
ENST00000680586.1:n.849+68T>A
ENST00000389652.9:c.2384+68T>A
ENST00000424120.5:c.2922+68T>A	ENSP00000403465.1:n.2922+68T>A
ENST00000503292.5:c.2922+68T>A	ENSP00000421809.1:n.2922+68T>A
ENST00000506643.4:c.1250+68T>A
ENST00000634028.1:c.2905+68T>A	ENSP00000488669.1:n.2905+68T>A
NM_001080522.2:c.2922+68T>A , LRG_697t1:c.2922+68T>A	NP_001073991.2:n.2922+68T>A
XM_005248177.1:c.2922+68T>A	XP_005248234.1:n.2922+68T>A
XM_011513869.1:c.2922+68T>A	XP_011512171.1:n.2922+68T>A
XM_011513870.1:c.2922+68T>A	XP_011512172.1:n.2922+68T>A
XM_011513871.1:c.2775+68T>A	XP_011512173.1:n.2775+68T>A
XM_011513872.1:c.2922+68T>A	XP_011512174.1:n.2922+68T>A
XM_011513873.1:c.2922+68T>A	XP_011512175.1:n.2922+68T>A
XM_011513872.3:c.2922+68T>A	XP_011512174.1:n.2922+68T>A
XM_017008482.1:c.2775+68T>A	XP_016863971.1:n.2775+68T>A
XR_001741296.1:n.3122+68T>A
NM_001378615.1:c.2922+68T>A MANE Select	NP_001365544.1:n.2922+68T>A
NM_001378617.1:c.2775+68T>A	NP_001365546.1:n.2775+68T>A