Canonical Allele Identifier: CA356418450

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15569105G>T (hg19) ; chr4:g.15567482G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567482G>T , CM000666.2:g.15567482G>T	GRCh38
NC_000004.11:g.15569105G>T , CM000666.1:g.15569105G>T	GRCh37
NC_000004.10:g.15178203G>T	NCBI36
NG_013035.1:g.102617G>T , LRG_697:g.102617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3303G>T	ENSP00000374303.8:p.Gln1101His
ENST00000424120.6:c.3288G>T MANE Select	ENSP00000403465.1:p.Gln1096His
ENST00000503292.6:c.3288G>T	ENSP00000421809.1:p.Gln1096His
ENST00000506643.5:c.3141G>T	ENSP00000422931.2:p.Gln1047His
ENST00000634028.2:c.3141G>T	ENSP00000488669.2:p.Gln1047His
ENST00000650860.2:c.*294G>T	ENSP00000498775.1:n.*294G>T
ENST00000674945.1:c.3141G>T	ENSP00000502333.1:p.Gln1047His
ENST00000675619.1:n.4099G>T
ENST00000675768.1:n.508G>T
ENST00000676337.1:c.*294G>T	ENSP00000501728.1:n.*294G>T
ENST00000680586.1:n.3947G>T
ENST00000389652.9:c.2765G>T
ENST00000424120.5:c.3288G>T	ENSP00000403465.1:p.Gln1096His
ENST00000503292.5:c.3288G>T	ENSP00000421809.1:p.Gln1096His
ENST00000506643.4:c.1616G>T
ENST00000634028.1:c.3271G>T	ENSP00000488669.1:n.3271G>T
NM_001080522.2:c.3288G>T , LRG_697t1:c.3288G>T	NP_001073991.2:p.Gln1096His
XM_005248177.1:c.3288G>T	XP_005248234.1:p.Gln1096His
XM_011513869.1:c.3288G>T	XP_011512171.1:p.Gln1096His
XM_011513870.1:c.3288G>T	XP_011512172.1:p.Gln1096His
XM_011513871.1:c.3141G>T	XP_011512173.1:p.Gln1047His
XM_017008482.1:c.3141G>T	XP_016863971.1:p.Gln1047His
XR_001741296.1:n.3533G>T
NM_001378615.1:c.3288G>T MANE Select	NP_001365544.1:p.Gln1096His
NM_001378617.1:c.3141G>T	NP_001365546.1:p.Gln1047His