Canonical Allele Identifier: CA356432335

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15599083A>T (hg19) ; chr4:g.15597460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15597460A>T , CM000666.2:g.15597460A>T	GRCh38
NC_000004.11:g.15599083A>T , CM000666.1:g.15599083A>T	GRCh37
NC_000004.10:g.15208181A>T	NCBI36
NG_013035.1:g.132595A>T , LRG_697:g.132595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4527A>T	ENSP00000374303.8:p.Gln1509His
ENST00000424120.6:c.4491A>T MANE Select	ENSP00000403465.1:p.Gln1497His
ENST00000503292.6:c.4491A>T	ENSP00000421809.1:p.Gln1497His
ENST00000506643.5:c.4344A>T	ENSP00000422931.2:p.Gln1448His
ENST00000513035.2:n.390A>T
ENST00000514039.6:c.597A>T	ENSP00000488534.2:p.Gln199His
ENST00000634028.2:c.4285A>T	ENSP00000488669.2:n.4285A>T
ENST00000650860.2:c.*1988A>T	ENSP00000498775.1:n.*1988A>T
ENST00000674945.1:c.4167A>T	ENSP00000502333.1:p.Gln1389His
ENST00000680586.1:n.5150A>T
ENST00000389652.9:c.3989A>T
ENST00000424120.5:c.4491A>T	ENSP00000403465.1:p.Gln1497His
ENST00000503292.5:c.4491A>T	ENSP00000421809.1:p.Gln1497His
ENST00000506643.4:c.2760A>T
ENST00000513035.1:n.390A>T
ENST00000514039.5:c.107A>T
ENST00000634028.1:c.4297A>T	ENSP00000488669.1:n.4297A>T
NM_001080522.2:c.4491A>T , LRG_697t1:c.4491A>T	NP_001073991.2:p.Gln1497His
XM_005248177.1:c.4491A>T	XP_005248234.1:p.Gln1497His
XM_011513869.1:c.4509A>T	XP_011512171.1:p.Gln1503His
XM_011513870.1:c.4509A>T	XP_011512172.1:p.Gln1503His
XM_011513871.1:c.4362A>T	XP_011512173.1:p.Gln1454His
XM_017008482.1:c.4344A>T	XP_016863971.1:p.Gln1448His
NM_001378615.1:c.4491A>T MANE Select	NP_001365544.1:p.Gln1497His
NM_001378617.1:c.4344A>T	NP_001365546.1:p.Gln1448His