Canonical Allele Identifier: CA405355015

Gene: ETV2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35643397C>T , CM000681.2:g.35643397C>T	GRCh38
NC_000019.9:g.36134299C>T , CM000681.1:g.36134299C>T	GRCh37
NC_000019.8:g.40826139C>T	NCBI36
NG_012193.1:g.145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014209.4:c.359C>T MANE Select	NP_055024.2:p.Pro120Leu
ENST00000402764.6:c.359C>T MANE Select	ENSP00000384524.2:p.Pro120Leu
NM_001300974.1:c.80C>T	NP_001287903.1:p.Pro27Leu
NM_001300974.2:c.80C>T	NP_001287903.1:p.Pro27Leu
NM_001304549.1:c.154+699C>T	NP_001291478.1:n.154+699C>T
NM_001304549.2:c.154+699C>T	NP_001291478.1:n.154+699C>T
NM_014209.3:c.359C>T	NP_055024.2:p.Pro120Leu
ENST00000379023.8:c.154+699C>T	ENSP00000368309.3:n.154+699C>T
ENST00000379026.6:c.443C>T	ENSP00000368312.2:p.Pro148Leu
ENST00000403402.1:c.359C>T	ENSP00000385369.1:p.Pro120Leu
ENST00000479824.5:c.80C>T	ENSP00000468453.1:p.Pro27Leu
ENST00000619399.4:c.359C>T	ENSP00000477924.1:p.Pro120Leu
ENST00000621247.4:c.359C>T	ENSP00000480641.1:p.Pro120Leu
XM_005258652.2:c.443C>T	XP_005258709.1:p.Pro148Leu
XM_005258653.2:c.278C>T	XP_005258710.1:p.Pro93Leu
XM_011526624.1:c.80C>T	XP_011524926.1:p.Pro27Leu
XM_011526624.2:c.80C>T	XP_011524926.1:p.Pro27Leu
XM_017026472.1:c.362C>T	XP_016881961.1:p.Pro121Leu