Canonical Allele Identifier: CA346075691
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742495G>T , CM000664.2:g.25742495G>T GRCh38
NC_000002.11:g.25965364G>T , CM000664.1:g.25965364G>T GRCh37
NC_000002.10:g.25818868G>T NCBI36
NG_052995.1:g.141022C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3839C>A ENSP00000337250.5:p.Ala1280Glu
ENST00000435504.9:c.3842C>A MANE Select ENSP00000391447.3:p.Ala1281Glu
ENST00000336112.8:c.3758C>A ENSP00000337250.4:p.Ala1253Glu
ENST00000404843.5:c.2291C>A ENSP00000383920.1:p.Ala764Glu
ENST00000435504.8:c.3842C>A ENSP00000391447.3:p.Ala1281Glu
NM_018263.4:c.3842C>A NP_060733.4:p.Ala1281Glu
XM_006712039.2:c.3476C>A XP_006712102.1:p.Ala1159Glu
XM_006712040.1:c.3062C>A XP_006712103.1:p.Ala1021Glu
XM_011532950.1:c.3839C>A XP_011531252.1:p.Ala1280Glu
XM_011532951.1:c.3668C>A XP_011531253.1:p.Ala1223Glu
NM_018263.5:c.3842C>A NP_060733.4:p.Ala1281Glu
XM_006712039.3:c.3476C>A XP_006712102.1:p.Ala1159Glu
XM_006712040.2:c.3062C>A XP_006712103.1:p.Ala1021Glu
XM_011532950.3:c.3839C>A XP_011531252.1:p.Ala1280Glu
XM_011532951.2:c.3668C>A XP_011531253.1:p.Ala1223Glu
XM_017004430.1:c.3062C>A XP_016859919.1:p.Ala1021Glu
XM_024452974.1:c.4022C>A XP_024308742.1:p.Ala1341Glu
NM_001369346.1:c.3668C>A NP_001356275.1:p.Ala1223Glu
NM_001369347.1:c.3062C>A NP_001356276.1:p.Ala1021Glu
NM_018263.6:c.3842C>A MANE Select NP_060733.4:p.Ala1281Glu