Canonical Allele Identifier: CA405355085
Community Standard Title: NM_014209.4(ETV2):c.385G>A (p.Gly129Ser)
Gene: ETV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35643423G>A , CM000681.2:g.35643423G>A GRCh38
NC_000019.9:g.36134325G>A , CM000681.1:g.36134325G>A GRCh37
NC_000019.8:g.40826165G>A NCBI36
NG_012193.1:g.171G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014209.4:c.385G>A MANE Select NP_055024.2:p.Gly129Ser
ENST00000402764.6:c.385G>A MANE Select ENSP00000384524.2:p.Gly129Ser
NM_001300974.1:c.106G>A NP_001287903.1:p.Gly36Ser
NM_001300974.2:c.106G>A NP_001287903.1:p.Gly36Ser
NM_001304549.1:c.154+725G>A NP_001291478.1:n.154+725G>A
NM_001304549.2:c.154+725G>A NP_001291478.1:n.154+725G>A
NM_014209.3:c.385G>A NP_055024.2:p.Gly129Ser
ENST00000379023.8:c.154+725G>A ENSP00000368309.3:n.154+725G>A
ENST00000379026.6:c.469G>A ENSP00000368312.2:p.Gly157Ser
ENST00000403402.1:c.385G>A ENSP00000385369.1:p.Gly129Ser
ENST00000479824.5:c.106G>A ENSP00000468453.1:p.Gly36Ser
ENST00000619399.4:c.385G>A ENSP00000477924.1:p.Gly129Ser
ENST00000621247.4:c.385G>A ENSP00000480641.1:p.Gly129Ser
XM_005258652.2:c.469G>A XP_005258709.1:p.Gly157Ser
XM_005258653.2:c.304G>A XP_005258710.1:p.Gly102Ser
XM_011526624.1:c.106G>A XP_011524926.1:p.Gly36Ser
XM_011526624.2:c.106G>A XP_011524926.1:p.Gly36Ser
XM_017026472.1:c.388G>A XP_016881961.1:p.Gly130Ser