Canonical Allele Identifier: CA9382905

Gene: ETV2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35643338C>G , CM000681.2:g.35643338C>G	GRCh38
NC_000019.9:g.36134240C>G , CM000681.1:g.36134240C>G	GRCh37
NC_000019.8:g.40826080C>G	NCBI36
NG_012193.1:g.86C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014209.4:c.300C>G MANE Select	NP_055024.2:p.Asp100Glu
ENST00000402764.6:c.300C>G MANE Select	ENSP00000384524.2:p.Asp100Glu
NM_001300974.1:c.21C>G	NP_001287903.1:p.Asp7Glu
NM_001300974.2:c.21C>G	NP_001287903.1:p.Asp7Glu
NM_001304549.1:c.154+640C>G	NP_001291478.1:n.154+640C>G
NM_001304549.2:c.154+640C>G	NP_001291478.1:n.154+640C>G
NM_014209.3:c.300C>G	NP_055024.2:p.Asp100Glu
ENST00000379023.8:c.154+640C>G	ENSP00000368309.3:n.154+640C>G
ENST00000379026.6:c.384C>G	ENSP00000368312.2:p.Asp128Glu
ENST00000403402.1:c.300C>G	ENSP00000385369.1:p.Asp100Glu
ENST00000479824.5:c.21C>G	ENSP00000468453.1:p.Asp7Glu
ENST00000619399.4:c.300C>G	ENSP00000477924.1:p.Asp100Glu
ENST00000621247.4:c.300C>G	ENSP00000480641.1:p.Asp100Glu
XM_005258652.2:c.384C>G	XP_005258709.1:p.Asp128Glu
XM_005258653.2:c.219C>G	XP_005258710.1:p.Asp73Glu
XM_011526624.1:c.21C>G	XP_011524926.1:p.Asp7Glu
XM_011526624.2:c.21C>G	XP_011524926.1:p.Asp7Glu
XM_017026472.1:c.303C>G	XP_016881961.1:p.Asp101Glu