Canonical Allele Identifier: CA346075798
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742511C>T , CM000664.2:g.25742511C>T GRCh38
NC_000002.11:g.25965380C>T , CM000664.1:g.25965380C>T GRCh37
NC_000002.10:g.25818884C>T NCBI36
NG_052995.1:g.141006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3823G>A ENSP00000337250.5:p.Ala1275Thr
ENST00000435504.9:c.3826G>A MANE Select ENSP00000391447.3:p.Ala1276Thr
ENST00000336112.8:c.3742G>A ENSP00000337250.4:p.Ala1248Thr
ENST00000404843.5:c.2275G>A ENSP00000383920.1:p.Ala759Thr
ENST00000435504.8:c.3826G>A ENSP00000391447.3:p.Ala1276Thr
NM_018263.4:c.3826G>A NP_060733.4:p.Ala1276Thr
XM_006712039.2:c.3460G>A XP_006712102.1:p.Ala1154Thr
XM_006712040.1:c.3046G>A XP_006712103.1:p.Ala1016Thr
XM_011532950.1:c.3823G>A XP_011531252.1:p.Ala1275Thr
XM_011532951.1:c.3652G>A XP_011531253.1:p.Ala1218Thr
NM_018263.5:c.3826G>A NP_060733.4:p.Ala1276Thr
XM_006712039.3:c.3460G>A XP_006712102.1:p.Ala1154Thr
XM_006712040.2:c.3046G>A XP_006712103.1:p.Ala1016Thr
XM_011532950.3:c.3823G>A XP_011531252.1:p.Ala1275Thr
XM_011532951.2:c.3652G>A XP_011531253.1:p.Ala1218Thr
XM_017004430.1:c.3046G>A XP_016859919.1:p.Ala1016Thr
XM_024452974.1:c.4006G>A XP_024308742.1:p.Ala1336Thr
NM_001369346.1:c.3652G>A NP_001356275.1:p.Ala1218Thr
NM_001369347.1:c.3046G>A NP_001356276.1:p.Ala1016Thr
NM_018263.6:c.3826G>A MANE Select NP_060733.4:p.Ala1276Thr