Canonical Allele Identifier: CA114469
Gene: CC2D2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 743
ClinVar RCV Id: RCV000000779
dbSNP Id: rs118204051

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567752C>T , CM000666.2:g.15567752C>T GRCh38
NC_000004.11:g.15569375C>T , CM000666.1:g.15569375C>T GRCh37
NC_000004.10:g.15178473C>T NCBI36
NG_013035.1:g.102887C>T , LRG_697:g.102887C>T

Transcript Alleles

HGVS Amino-acid change
NM_001080522.2:c.3364C>T , LRG_697t1:c.3364C>T NP_001073991.2:p.Pro1122Ser
XM_005248177.1:c.3364C>T XP_005248234.1:p.Pro1122Ser
XM_011513869.1:c.3364C>T XP_011512171.1:p.Pro1122Ser
XM_011513870.1:c.3364C>T XP_011512172.1:p.Pro1122Ser
XM_011513871.1:c.3217C>T XP_011512173.1:p.Pro1073Ser
XM_017008482.1:c.3217C>T XP_016863971.1:p.Pro1073Ser
XR_001741296.1:n.3609C>T
ENST00000389652.9:n.2841C>T
ENST00000424120.5:c.3364C>T ENSP00000403465.1:p.Pro1122Ser
ENST00000503292.5:c.3364C>T ENSP00000421809.1:p.Pro1122Ser
ENST00000506643.4:n.1692C>T
ENST00000634028.1:n.3347C>T ENSP00000488669.1:p.=