Canonical Allele Identifier: CA346075975
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742534G>T , CM000664.2:g.25742534G>T GRCh38
NC_000002.11:g.25965403G>T , CM000664.1:g.25965403G>T GRCh37
NC_000002.10:g.25818907G>T NCBI36
NG_052995.1:g.140983C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3800C>A ENSP00000337250.5:p.Ala1267Glu
ENST00000435504.9:c.3803C>A MANE Select ENSP00000391447.3:p.Ala1268Glu
ENST00000336112.8:c.3719C>A ENSP00000337250.4:p.Ala1240Glu
ENST00000404843.5:c.2252C>A ENSP00000383920.1:p.Ala751Glu
ENST00000435504.8:c.3803C>A ENSP00000391447.3:p.Ala1268Glu
NM_018263.4:c.3803C>A NP_060733.4:p.Ala1268Glu
XM_006712039.2:c.3437C>A XP_006712102.1:p.Ala1146Glu
XM_006712040.1:c.3023C>A XP_006712103.1:p.Ala1008Glu
XM_011532950.1:c.3800C>A XP_011531252.1:p.Ala1267Glu
XM_011532951.1:c.3629C>A XP_011531253.1:p.Ala1210Glu
NM_018263.5:c.3803C>A NP_060733.4:p.Ala1268Glu
XM_006712039.3:c.3437C>A XP_006712102.1:p.Ala1146Glu
XM_006712040.2:c.3023C>A XP_006712103.1:p.Ala1008Glu
XM_011532950.3:c.3800C>A XP_011531252.1:p.Ala1267Glu
XM_011532951.2:c.3629C>A XP_011531253.1:p.Ala1210Glu
XM_017004430.1:c.3023C>A XP_016859919.1:p.Ala1008Glu
XM_024452974.1:c.3983C>A XP_024308742.1:p.Ala1328Glu
NM_001369346.1:c.3629C>A NP_001356275.1:p.Ala1210Glu
NM_001369347.1:c.3023C>A NP_001356276.1:p.Ala1008Glu
NM_018263.6:c.3803C>A MANE Select NP_060733.4:p.Ala1268Glu