Canonical Allele Identifier: CA346075836
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742517C>T , CM000664.2:g.25742517C>T GRCh38
NC_000002.11:g.25965386C>T , CM000664.1:g.25965386C>T GRCh37
NC_000002.10:g.25818890C>T NCBI36
NG_052995.1:g.141000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3817G>A ENSP00000337250.5:p.Ala1273Thr
ENST00000435504.9:c.3820G>A MANE Select ENSP00000391447.3:p.Ala1274Thr
ENST00000336112.8:c.3736G>A ENSP00000337250.4:p.Ala1246Thr
ENST00000404843.5:c.2269G>A ENSP00000383920.1:p.Ala757Thr
ENST00000435504.8:c.3820G>A ENSP00000391447.3:p.Ala1274Thr
NM_018263.4:c.3820G>A NP_060733.4:p.Ala1274Thr
XM_006712039.2:c.3454G>A XP_006712102.1:p.Ala1152Thr
XM_006712040.1:c.3040G>A XP_006712103.1:p.Ala1014Thr
XM_011532950.1:c.3817G>A XP_011531252.1:p.Ala1273Thr
XM_011532951.1:c.3646G>A XP_011531253.1:p.Ala1216Thr
NM_018263.5:c.3820G>A NP_060733.4:p.Ala1274Thr
XM_006712039.3:c.3454G>A XP_006712102.1:p.Ala1152Thr
XM_006712040.2:c.3040G>A XP_006712103.1:p.Ala1014Thr
XM_011532950.3:c.3817G>A XP_011531252.1:p.Ala1273Thr
XM_011532951.2:c.3646G>A XP_011531253.1:p.Ala1216Thr
XM_017004430.1:c.3040G>A XP_016859919.1:p.Ala1014Thr
XM_024452974.1:c.4000G>A XP_024308742.1:p.Ala1334Thr
NM_001369346.1:c.3646G>A NP_001356275.1:p.Ala1216Thr
NM_001369347.1:c.3040G>A NP_001356276.1:p.Ala1014Thr
NM_018263.6:c.3820G>A MANE Select NP_060733.4:p.Ala1274Thr