Canonical Allele Identifier: CA356409564
Community Standard Title: NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15515900C>T , CM000666.2:g.15515900C>T GRCh38
NC_000004.11:g.15517523C>T , CM000666.1:g.15517523C>T GRCh37
NC_000004.10:g.15126621C>T NCBI36
NG_013035.1:g.51035C>T , LRG_697:g.51035C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.913C>T MANE Select NP_001365544.1:p.Gln305Ter
ENST00000424120.6:c.913C>T MANE Select ENSP00000403465.1:p.Gln305Ter
NM_001080522.2:c.913C>T , LRG_697t1:c.913C>T NP_001073991.2:p.Gln305Ter
NM_001378617.1:c.766C>T NP_001365546.1:p.Gln256Ter
ENST00000389652.11:c.913C>T ENSP00000374303.8:p.Gln305Ter
ENST00000389652.9:c.375C>T
ENST00000424120.5:c.913C>T ENSP00000403465.1:p.Gln305Ter
ENST00000503292.5:c.913C>T ENSP00000421809.1:p.Gln305Ter
ENST00000503292.6:c.913C>T ENSP00000421809.1:p.Gln305Ter
ENST00000506643.5:c.766C>T ENSP00000422931.2:p.Gln256Ter
ENST00000512702.5:c.913C>T ENSP00000422875.1:p.Gln305Ter
ENST00000512702.6:c.913C>T ENSP00000422875.2:p.Gln305Ter
ENST00000513811.5:n.1093C>T
ENST00000634028.1:c.896C>T ENSP00000488669.1:n.896C>T
ENST00000634028.2:c.766C>T ENSP00000488669.2:p.Gln256Ter
ENST00000650860.2:c.766C>T ENSP00000498775.1:p.Gln256Ter
ENST00000651385.1:c.766C>T ENSP00000499005.1:p.Gln256Ter
ENST00000674945.1:c.766C>T ENSP00000502333.1:p.Gln256Ter
ENST00000676337.1:c.766C>T ENSP00000501728.1:p.Gln256Ter
XM_005248177.1:c.913C>T XP_005248234.1:p.Gln305Ter
XM_011513869.1:c.913C>T XP_011512171.1:p.Gln305Ter
XM_011513870.1:c.913C>T XP_011512172.1:p.Gln305Ter
XM_011513871.1:c.766C>T XP_011512173.1:p.Gln256Ter
XM_011513872.1:c.913C>T XP_011512174.1:p.Gln305Ter
XM_011513872.3:c.913C>T XP_011512174.1:p.Gln305Ter
XM_011513873.1:c.913C>T XP_011512175.1:p.Gln305Ter
XM_017008482.1:c.766C>T XP_016863971.1:p.Gln256Ter
XR_001741296.1:n.1113C>T