Canonical Allele Identifier: CA356431494
Gene: CC2D2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15596115C>T , CM000666.2:g.15596115C>T GRCh38
NC_000004.11:g.15597738C>T , CM000666.1:g.15597738C>T GRCh37
NC_000004.10:g.15206836C>T NCBI36
NG_013035.1:g.131250C>T , LRG_697:g.131250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.4381C>T ENSP00000374303.8:p.Pro1461Ser
ENST00000424120.6:c.4345C>T MANE Select ENSP00000403465.1:p.Pro1449Ser
ENST00000503292.6:c.4345C>T ENSP00000421809.1:p.Pro1449Ser
ENST00000506643.5:c.4198C>T ENSP00000422931.2:p.Pro1400Ser
ENST00000513035.2:n.244C>T
ENST00000514039.6:c.544-1292C>T ENSP00000488534.2:n.544-1292C>T
ENST00000634028.2:c.4168-29C>T ENSP00000488669.2:n.4168-29C>T
ENST00000650860.2:c.*1842C>T ENSP00000498775.1:n.*1842C>T
ENST00000674945.1:c.4021C>T ENSP00000502333.1:p.Pro1341Ser
ENST00000680586.1:n.5004C>T
ENST00000389652.9:c.3843C>T
ENST00000424120.5:c.4345C>T ENSP00000403465.1:p.Pro1449Ser
ENST00000503292.5:c.4345C>T ENSP00000421809.1:p.Pro1449Ser
ENST00000506643.4:c.2643-29C>T
ENST00000513035.1:n.244C>T
ENST00000514039.5:c.54-1292C>T
ENST00000634028.1:c.4151C>T ENSP00000488669.1:n.4151C>T
NM_001080522.2:c.4345C>T , LRG_697t1:c.4345C>T NP_001073991.2:p.Pro1449Ser
XM_005248177.1:c.4345C>T XP_005248234.1:p.Pro1449Ser
XM_011513869.1:c.4363C>T XP_011512171.1:p.Pro1455Ser
XM_011513870.1:c.4363C>T XP_011512172.1:p.Pro1455Ser
XM_011513871.1:c.4216C>T XP_011512173.1:p.Pro1406Ser
XM_017008482.1:c.4198C>T XP_016863971.1:p.Pro1400Ser
NM_001378615.1:c.4345C>T MANE Select NP_001365544.1:p.Pro1449Ser
NM_001378617.1:c.4198C>T NP_001365546.1:p.Pro1400Ser