Canonical Allele Identifier: CA2864244

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15580047G>A , CM000666.2:g.15580047G>A	GRCh38
NC_000004.11:g.15581670G>A , CM000666.1:g.15581670G>A	GRCh37
NC_000004.10:g.15190768G>A	NCBI36
NG_013035.1:g.115182G>A , LRG_697:g.115182G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3851G>A MANE Select	NP_001365544.1:p.Arg1284His
ENST00000424120.6:c.3851G>A MANE Select	ENSP00000403465.1:p.Arg1284His
NM_001080522.2:c.3851G>A , LRG_697t1:c.3851G>A	NP_001073991.2:p.Arg1284His
NM_001378617.1:c.3704G>A	NP_001365546.1:p.Arg1235His
ENST00000389652.11:c.3887G>A	ENSP00000374303.8:p.Arg1296His
ENST00000389652.9:c.3349G>A
ENST00000424120.5:c.3851G>A	ENSP00000403465.1:p.Arg1284His
ENST00000503292.5:c.3851G>A	ENSP00000421809.1:p.Arg1284His
ENST00000503292.6:c.3851G>A	ENSP00000421809.1:p.Arg1284His
ENST00000506643.4:c.2179G>A
ENST00000506643.5:c.3704G>A	ENSP00000422931.2:p.Arg1235His
ENST00000514039.6:c.80G>A	ENSP00000488534.2:p.Arg27His
ENST00000634028.1:c.3657G>A	ENSP00000488669.1:n.3657G>A
ENST00000634028.2:c.3704G>A	ENSP00000488669.2:p.Arg1235His
ENST00000650860.2:c.*1348G>A	ENSP00000498775.1:n.*1348G>A
ENST00000674945.1:c.3527G>A	ENSP00000502333.1:p.Arg1176His
ENST00000675619.1:n.4683G>A
ENST00000675768.1:n.1071G>A
ENST00000676337.1:c.*857G>A	ENSP00000501728.1:n.*857G>A
ENST00000680586.1:n.4510G>A
XM_005248177.1:c.3851G>A	XP_005248234.1:p.Arg1284His
XM_011513869.1:c.3851G>A	XP_011512171.1:p.Arg1284His
XM_011513870.1:c.3851G>A	XP_011512172.1:p.Arg1284His
XM_011513871.1:c.3704G>A	XP_011512173.1:p.Arg1235His
XM_017008482.1:c.3704G>A	XP_016863971.1:p.Arg1235His
XR_001741296.1:n.4096G>A