Canonical Allele Identifier: CA2863865
Community Standard Title: NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15550838C>T , CM000666.2:g.15550838C>T GRCh38
NC_000004.11:g.15552461C>T , CM000666.1:g.15552461C>T GRCh37
NC_000004.10:g.15161559C>T NCBI36
NG_013035.1:g.85973C>T , LRG_697:g.85973C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.2196C>T MANE Select NP_001365544.1:p.Val732=
ENST00000424120.6:c.2196C>T MANE Select ENSP00000403465.1:p.Val732=
NM_001080522.2:c.2196C>T , LRG_697t1:c.2196C>T NP_001073991.2:p.Val732=
NM_001378617.1:c.2049C>T NP_001365546.1:p.Val683=
ENST00000389652.11:c.2196C>T ENSP00000374303.8:p.Val732=
ENST00000389652.9:c.1658C>T
ENST00000424120.5:c.2196C>T ENSP00000403465.1:p.Val732=
ENST00000503292.5:c.2196C>T ENSP00000421809.1:p.Val732=
ENST00000503292.6:c.2196C>T ENSP00000421809.1:p.Val732=
ENST00000506643.4:c.524C>T
ENST00000506643.5:c.2049C>T ENSP00000422931.2:p.Val683=
ENST00000512202.1:n.101C>T
ENST00000634028.1:c.2179C>T ENSP00000488669.1:n.2179C>T
ENST00000634028.2:c.2049C>T ENSP00000488669.2:p.Val683=
ENST00000650860.2:c.2049C>T ENSP00000498775.1:p.Val683=
ENST00000674945.1:c.2049C>T ENSP00000502333.1:p.Val683=
ENST00000675619.1:n.275C>T
ENST00000676337.1:c.2049C>T ENSP00000501728.1:p.Val683=
ENST00000680586.1:n.123C>T
XM_005248177.1:c.2196C>T XP_005248234.1:p.Val732=
XM_011513869.1:c.2196C>T XP_011512171.1:p.Val732=
XM_011513870.1:c.2196C>T XP_011512172.1:p.Val732=
XM_011513871.1:c.2049C>T XP_011512173.1:p.Val683=
XM_011513872.1:c.2196C>T XP_011512174.1:p.Val732=
XM_011513872.3:c.2196C>T XP_011512174.1:p.Val732=
XM_011513873.1:c.2196C>T XP_011512175.1:p.Val732=
XM_017008482.1:c.2049C>T XP_016863971.1:p.Val683=
XR_001741296.1:n.2396C>T