Canonical Allele Identifier: CA438391033

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1198741934
• gnomAD v2: 4-15597731-T-C
• gnomAD v4: 4-15596108-T-C
• MyVariant Identifiers: chr4:g.15597731T>C (hg19) ; chr4:g.15596108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596108T>C , CM000666.2:g.15596108T>C	GRCh38
NC_000004.11:g.15597731T>C , CM000666.1:g.15597731T>C	GRCh37
NC_000004.10:g.15206829T>C	NCBI36
NG_013035.1:g.131243T>C , LRG_697:g.131243T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4374T>C	ENSP00000374303.8:p.Tyr1458=
ENST00000424120.6:c.4338T>C MANE Select	ENSP00000403465.1:p.Tyr1446=
ENST00000503292.6:c.4338T>C	ENSP00000421809.1:p.Tyr1446=
ENST00000506643.5:c.4191T>C	ENSP00000422931.2:p.Tyr1397=
ENST00000513035.2:n.237T>C
ENST00000514039.6:c.544-1299T>C	ENSP00000488534.2:n.544-1299T>C
ENST00000634028.2:c.4168-36T>C	ENSP00000488669.2:n.4168-36T>C
ENST00000650860.2:c.*1835T>C	ENSP00000498775.1:n.*1835T>C
ENST00000674945.1:c.4014T>C	ENSP00000502333.1:p.Tyr1338=
ENST00000680586.1:n.4997T>C
ENST00000389652.9:c.3836T>C
ENST00000424120.5:c.4338T>C	ENSP00000403465.1:p.Tyr1446=
ENST00000503292.5:c.4338T>C	ENSP00000421809.1:p.Tyr1446=
ENST00000506643.4:c.2643-36T>C
ENST00000513035.1:n.237T>C
ENST00000514039.5:c.54-1299T>C
ENST00000634028.1:c.4144T>C	ENSP00000488669.1:n.4144T>C
NM_001080522.2:c.4338T>C , LRG_697t1:c.4338T>C	NP_001073991.2:p.Tyr1446=
XM_005248177.1:c.4338T>C	XP_005248234.1:p.Tyr1446=
XM_011513869.1:c.4356T>C	XP_011512171.1:p.Tyr1452=
XM_011513870.1:c.4356T>C	XP_011512172.1:p.Tyr1452=
XM_011513871.1:c.4209T>C	XP_011512173.1:p.Tyr1403=
XM_017008482.1:c.4191T>C	XP_016863971.1:p.Tyr1397=
NM_001378615.1:c.4338T>C MANE Select	NP_001365544.1:p.Tyr1446=
NM_001378617.1:c.4191T>C	NP_001365546.1:p.Tyr1397=