Canonical Allele Identifier: CA144229

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 56307
• ClinVar RCV Id: RCV000049719
• dbSNP Id: rs386833755
• ExAC: 4:15572069 T / C
• gnomAD v2: 4-15572069-T-C
• gnomAD v3: 4-15570446-T-C
• gnomAD v4: 4-15570446-T-C
• MyVariant Identifiers: chr4:g.15572069T>C (hg19) ; chr4:g.15570446T>C (hg38)
• PubMed: PMID:21068128

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15570446T>C , CM000666.2:g.15570446T>C	GRCh38
NC_000004.11:g.15572069T>C , CM000666.1:g.15572069T>C	GRCh37
NC_000004.10:g.15181167T>C	NCBI36
NG_013035.1:g.105581T>C , LRG_697:g.105581T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3559T>C	ENSP00000374303.8:p.Trp1187Arg
ENST00000424120.6:c.3544T>C MANE Select	ENSP00000403465.1:p.Trp1182Arg
ENST00000503292.6:c.3544T>C	ENSP00000421809.1:p.Trp1182Arg
ENST00000506643.5:c.3397T>C	ENSP00000422931.2:p.Trp1133Arg
ENST00000634028.2:c.3397T>C	ENSP00000488669.2:p.Trp1133Arg
ENST00000650860.2:c.*550T>C	ENSP00000498775.1:n.*550T>C
ENST00000674945.1:c.3397T>C	ENSP00000502333.1:p.Trp1133Arg
ENST00000675619.1:n.4355T>C
ENST00000675768.1:n.764T>C
ENST00000676337.1:c.*550T>C	ENSP00000501728.1:n.*550T>C
ENST00000680586.1:n.4203T>C
ENST00000389652.9:c.3021T>C
ENST00000424120.5:c.3544T>C	ENSP00000403465.1:p.Trp1182Arg
ENST00000503292.5:c.3544T>C	ENSP00000421809.1:p.Trp1182Arg
ENST00000506643.4:c.1872T>C
ENST00000634028.1:c.3527T>C	ENSP00000488669.1:n.3527T>C
NM_001080522.2:c.3544T>C , LRG_697t1:c.3544T>C	NP_001073991.2:p.Trp1182Arg
XM_005248177.1:c.3544T>C	XP_005248234.1:p.Trp1182Arg
XM_011513869.1:c.3544T>C	XP_011512171.1:p.Trp1182Arg
XM_011513870.1:c.3544T>C	XP_011512172.1:p.Trp1182Arg
XM_011513871.1:c.3397T>C	XP_011512173.1:p.Trp1133Arg
XM_017008482.1:c.3397T>C	XP_016863971.1:p.Trp1133Arg
XR_001741296.1:n.3789T>C
NM_001378615.1:c.3544T>C MANE Select	NP_001365544.1:p.Trp1182Arg
NM_001378617.1:c.3397T>C	NP_001365546.1:p.Trp1133Arg