Canonical Allele Identifier: CA9382927

Gene: ETV2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35643510G>A , CM000681.2:g.35643510G>A	GRCh38
NC_000019.9:g.36134412G>A , CM000681.1:g.36134412G>A	GRCh37
NC_000019.8:g.40826252G>A	NCBI36
NG_012193.1:g.258G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014209.4:c.472G>A MANE Select	NP_055024.2:p.Val158Met
ENST00000402764.6:c.472G>A MANE Select	ENSP00000384524.2:p.Val158Met
NM_001300974.1:c.193G>A	NP_001287903.1:p.Val65Met
NM_001300974.2:c.193G>A	NP_001287903.1:p.Val65Met
NM_001304549.1:c.155-725G>A	NP_001291478.1:n.155-725G>A
NM_001304549.2:c.155-725G>A	NP_001291478.1:n.155-725G>A
NM_014209.3:c.472G>A	NP_055024.2:p.Val158Met
ENST00000379023.8:c.155-725G>A	ENSP00000368309.3:n.155-725G>A
ENST00000379026.6:c.556G>A	ENSP00000368312.2:p.Val186Met
ENST00000403402.1:c.472G>A	ENSP00000385369.1:p.Val158Met
ENST00000479824.5:c.193G>A	ENSP00000468453.1:p.Val65Met
ENST00000619399.4:c.395-75G>A	ENSP00000477924.1:n.395-75G>A
ENST00000621247.4:c.401+70G>A	ENSP00000480641.1:n.401+70G>A
XM_005258652.2:c.556G>A	XP_005258709.1:p.Val186Met
XM_005258653.2:c.391G>A	XP_005258710.1:p.Val131Met
XM_011526624.1:c.193G>A	XP_011524926.1:p.Val65Met
XM_011526624.2:c.193G>A	XP_011524926.1:p.Val65Met
XM_017026472.1:c.475G>A	XP_016881961.1:p.Val159Met