Canonical Allele Identifier: CA438388463
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567685A>T , CM000666.2:g.15567685A>T GRCh38
NC_000004.11:g.15569308A>T , CM000666.1:g.15569308A>T GRCh37
NC_000004.10:g.15178406A>T NCBI36
NG_013035.1:g.102820A>T , LRG_697:g.102820A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3312A>T ENSP00000374303.8:p.Val1104=
ENST00000424120.6:c.3297A>T MANE Select ENSP00000403465.1:p.Val1099=
ENST00000503292.6:c.3297A>T ENSP00000421809.1:p.Val1099=
ENST00000506643.5:c.3150A>T ENSP00000422931.2:p.Val1050=
ENST00000634028.2:c.3150A>T ENSP00000488669.2:p.Val1050=
ENST00000650860.2:c.*303A>T ENSP00000498775.1:n.*303A>T
ENST00000674945.1:c.3150A>T ENSP00000502333.1:p.Val1050=
ENST00000675619.1:n.4108A>T
ENST00000675768.1:n.517A>T
ENST00000676337.1:c.*303A>T ENSP00000501728.1:n.*303A>T
ENST00000680586.1:n.3956A>T
ENST00000389652.9:c.2774A>T
ENST00000424120.5:c.3297A>T ENSP00000403465.1:p.Val1099=
ENST00000503292.5:c.3297A>T ENSP00000421809.1:p.Val1099=
ENST00000506643.4:c.1625A>T
ENST00000634028.1:c.3280A>T ENSP00000488669.1:n.3280A>T
NM_001080522.2:c.3297A>T , LRG_697t1:c.3297A>T NP_001073991.2:p.Val1099=
XM_005248177.1:c.3297A>T XP_005248234.1:p.Val1099=
XM_011513869.1:c.3297A>T XP_011512171.1:p.Val1099=
XM_011513870.1:c.3297A>T XP_011512172.1:p.Val1099=
XM_011513871.1:c.3150A>T XP_011512173.1:p.Val1050=
XM_017008482.1:c.3150A>T XP_016863971.1:p.Val1050=
XR_001741296.1:n.3542A>T
NM_001378615.1:c.3297A>T MANE Select NP_001365544.1:p.Val1099=
NM_001378617.1:c.3150A>T NP_001365546.1:p.Val1050=