Canonical Allele Identifier: CA356428736
Community Standard Title: NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15587838G>T , CM000666.2:g.15587838G>T GRCh38
NC_000004.11:g.15589461G>T , CM000666.1:g.15589461G>T GRCh37
NC_000004.10:g.15198559G>T NCBI36
NG_013035.1:g.122973G>T , LRG_697:g.122973G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.4088G>T MANE Select NP_001365544.1:p.Gly1363Val
ENST00000424120.6:c.4088G>T MANE Select ENSP00000403465.1:p.Gly1363Val
NM_001080522.2:c.4088G>T , LRG_697t1:c.4088G>T NP_001073991.2:p.Gly1363Val
NM_001378617.1:c.3941G>T NP_001365546.1:p.Gly1314Val
ENST00000389652.11:c.4124G>T ENSP00000374303.8:p.Gly1375Val
ENST00000389652.9:c.3586G>T
ENST00000424120.5:c.4088G>T ENSP00000403465.1:p.Gly1363Val
ENST00000503292.5:c.4088G>T ENSP00000421809.1:p.Gly1363Val
ENST00000503292.6:c.4088G>T ENSP00000421809.1:p.Gly1363Val
ENST00000506643.4:c.2416G>T
ENST00000506643.5:c.3941G>T ENSP00000422931.2:p.Gly1314Val
ENST00000514039.6:c.317G>T ENSP00000488534.2:p.Gly106Val
ENST00000634028.1:c.3894G>T ENSP00000488669.1:n.3894G>T
ENST00000634028.2:c.3941G>T ENSP00000488669.2:p.Gly1314Val
ENST00000650860.2:c.*1585G>T ENSP00000498775.1:n.*1585G>T
ENST00000674945.1:c.3764G>T ENSP00000502333.1:p.Gly1255Val
ENST00000675768.1:n.1308G>T
ENST00000680586.1:n.4747G>T
XM_005248177.1:c.4088G>T XP_005248234.1:p.Gly1363Val
XM_011513869.1:c.4106G>T XP_011512171.1:p.Gly1369Val
XM_011513870.1:c.4106G>T XP_011512172.1:p.Gly1369Val
XM_011513871.1:c.3959G>T XP_011512173.1:p.Gly1320Val
XM_017008482.1:c.3941G>T XP_016863971.1:p.Gly1314Val