Canonical Allele Identifier: CA438388481
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567688T>G , CM000666.2:g.15567688T>G GRCh38
NC_000004.11:g.15569311T>G , CM000666.1:g.15569311T>G GRCh37
NC_000004.10:g.15178409T>G NCBI36
NG_013035.1:g.102823T>G , LRG_697:g.102823T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.3315T>G ENSP00000374303.8:p.Arg1105=
ENST00000424120.6:c.3300T>G MANE Select ENSP00000403465.1:p.Arg1100=
ENST00000503292.6:c.3300T>G ENSP00000421809.1:p.Arg1100=
ENST00000506643.5:c.3153T>G ENSP00000422931.2:p.Arg1051=
ENST00000634028.2:c.3153T>G ENSP00000488669.2:p.Arg1051=
ENST00000650860.2:c.*306T>G ENSP00000498775.1:n.*306T>G
ENST00000674945.1:c.3153T>G ENSP00000502333.1:p.Arg1051=
ENST00000675619.1:n.4111T>G
ENST00000675768.1:n.520T>G
ENST00000676337.1:c.*306T>G ENSP00000501728.1:n.*306T>G
ENST00000680586.1:n.3959T>G
ENST00000389652.9:c.2777T>G
ENST00000424120.5:c.3300T>G ENSP00000403465.1:p.Arg1100=
ENST00000503292.5:c.3300T>G ENSP00000421809.1:p.Arg1100=
ENST00000506643.4:c.1628T>G
ENST00000634028.1:c.3283T>G ENSP00000488669.1:n.3283T>G
NM_001080522.2:c.3300T>G , LRG_697t1:c.3300T>G NP_001073991.2:p.Arg1100=
XM_005248177.1:c.3300T>G XP_005248234.1:p.Arg1100=
XM_011513869.1:c.3300T>G XP_011512171.1:p.Arg1100=
XM_011513870.1:c.3300T>G XP_011512172.1:p.Arg1100=
XM_011513871.1:c.3153T>G XP_011512173.1:p.Arg1051=
XM_017008482.1:c.3153T>G XP_016863971.1:p.Arg1051=
XR_001741296.1:n.3545T>G
NM_001378615.1:c.3300T>G MANE Select NP_001365544.1:p.Arg1100=
NM_001378617.1:c.3153T>G NP_001365546.1:p.Arg1051=