Canonical Allele Identifier: CA9382911
Community Standard Title: NM_014209.4(ETV2):c.334G>A (p.Ala112Thr)
Gene: ETV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35643372G>A , CM000681.2:g.35643372G>A GRCh38
NC_000019.9:g.36134274G>A , CM000681.1:g.36134274G>A GRCh37
NC_000019.8:g.40826114G>A NCBI36
NG_012193.1:g.120G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014209.4:c.334G>A MANE Select NP_055024.2:p.Ala112Thr
ENST00000402764.6:c.334G>A MANE Select ENSP00000384524.2:p.Ala112Thr
NM_001300974.1:c.55G>A NP_001287903.1:p.Ala19Thr
NM_001300974.2:c.55G>A NP_001287903.1:p.Ala19Thr
NM_001304549.1:c.154+674G>A NP_001291478.1:n.154+674G>A
NM_001304549.2:c.154+674G>A NP_001291478.1:n.154+674G>A
NM_014209.3:c.334G>A NP_055024.2:p.Ala112Thr
ENST00000379023.8:c.154+674G>A ENSP00000368309.3:n.154+674G>A
ENST00000379026.6:c.418G>A ENSP00000368312.2:p.Ala140Thr
ENST00000403402.1:c.334G>A ENSP00000385369.1:p.Ala112Thr
ENST00000479824.5:c.55G>A ENSP00000468453.1:p.Ala19Thr
ENST00000619399.4:c.334G>A ENSP00000477924.1:p.Ala112Thr
ENST00000621247.4:c.334G>A ENSP00000480641.1:p.Ala112Thr
XM_005258652.2:c.418G>A XP_005258709.1:p.Ala140Thr
XM_005258653.2:c.253G>A XP_005258710.1:p.Ala85Thr
XM_011526624.1:c.55G>A XP_011524926.1:p.Ala19Thr
XM_011526624.2:c.55G>A XP_011524926.1:p.Ala19Thr
XM_017026472.1:c.337G>A XP_016881961.1:p.Ala113Thr