Canonical Allele Identifier: CA209579

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 210611
• ClinVar RCV Id: RCV000195028 ; RCV000301860 ; RCV000361304 ; RCV000265440 ; RCV000727171 ; RCV001428613
• dbSNP Id: rs372671421
• ExAC: 4:15591284 T / C
• gnomAD v2: 4-15591284-T-C
• gnomAD v3: 4-15589661-T-C
• gnomAD v4: 4-15589661-T-C
• MyVariant Identifiers: chr4:g.15591284T>C (hg19) ; chr4:g.15589661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589661T>C , CM000666.2:g.15589661T>C	GRCh38
NC_000004.11:g.15591284T>C , CM000666.1:g.15591284T>C	GRCh37
NC_000004.10:g.15200382T>C	NCBI36
NG_013035.1:g.124796T>C , LRG_697:g.124796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4332T>C	ENSP00000374303.8:p.Cys1444=
ENST00000424120.6:c.4296T>C MANE Select	ENSP00000403465.1:p.Cys1432=
ENST00000503292.6:c.4296T>C	ENSP00000421809.1:p.Cys1432=
ENST00000506643.5:c.4149T>C	ENSP00000422931.2:p.Cys1383=
ENST00000514039.6:c.525T>C	ENSP00000488534.2:p.Cys175=
ENST00000634028.2:c.4149T>C	ENSP00000488669.2:p.Cys1383=
ENST00000650860.2:c.*1793T>C	ENSP00000498775.1:n.*1793T>C
ENST00000674945.1:c.3972T>C	ENSP00000502333.1:p.Cys1324=
ENST00000675768.1:n.1516T>C
ENST00000680586.1:n.4955T>C
ENST00000389652.9:c.3794T>C
ENST00000424120.5:c.4296T>C	ENSP00000403465.1:p.Cys1432=
ENST00000503292.5:c.4296T>C	ENSP00000421809.1:p.Cys1432=
ENST00000506643.4:c.2624T>C
ENST00000514039.5:c.35T>C
ENST00000634028.1:c.4102T>C	ENSP00000488669.1:n.4102T>C
NM_001080522.2:c.4296T>C , LRG_697t1:c.4296T>C	NP_001073991.2:p.Cys1432=
XM_005248177.1:c.4296T>C	XP_005248234.1:p.Cys1432=
XM_011513869.1:c.4314T>C	XP_011512171.1:p.Cys1438=
XM_011513870.1:c.4314T>C	XP_011512172.1:p.Cys1438=
XM_011513871.1:c.4167T>C	XP_011512173.1:p.Cys1389=
XM_017008482.1:c.4149T>C	XP_016863971.1:p.Cys1383=
NM_001378615.1:c.4296T>C MANE Select	NP_001365544.1:p.Cys1432=
NM_001378617.1:c.4149T>C	NP_001365546.1:p.Cys1383=