Canonical Allele Identifier: CA346073642
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742121C>T , CM000664.2:g.25742121C>T GRCh38
NC_000002.11:g.25964990C>T , CM000664.1:g.25964990C>T GRCh37
NC_000002.10:g.25818494C>T NCBI36
NG_052995.1:g.141396G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4213G>A ENSP00000337250.5:p.Ala1405Thr
ENST00000435504.9:c.4216G>A MANE Select ENSP00000391447.3:p.Ala1406Thr
ENST00000336112.8:c.4132G>A ENSP00000337250.4:p.Ala1378Thr
ENST00000404843.5:c.2665G>A ENSP00000383920.1:p.Ala889Thr
ENST00000435504.8:c.4216G>A ENSP00000391447.3:p.Ala1406Thr
NM_018263.4:c.4216G>A NP_060733.4:p.Ala1406Thr
XM_006712039.2:c.3850G>A XP_006712102.1:p.Ala1284Thr
XM_006712040.1:c.3436G>A XP_006712103.1:p.Ala1146Thr
XM_011532950.1:c.4213G>A XP_011531252.1:p.Ala1405Thr
XM_011532951.1:c.4042G>A XP_011531253.1:p.Ala1348Thr
NM_018263.5:c.4216G>A NP_060733.4:p.Ala1406Thr
XM_006712039.3:c.3850G>A XP_006712102.1:p.Ala1284Thr
XM_006712040.2:c.3436G>A XP_006712103.1:p.Ala1146Thr
XM_011532950.3:c.4213G>A XP_011531252.1:p.Ala1405Thr
XM_011532951.2:c.4042G>A XP_011531253.1:p.Ala1348Thr
XM_017004430.1:c.3436G>A XP_016859919.1:p.Ala1146Thr
XM_024452974.1:c.4396G>A XP_024308742.1:p.Ala1466Thr
NM_001369346.1:c.4042G>A NP_001356275.1:p.Ala1348Thr
NM_001369347.1:c.3436G>A NP_001356276.1:p.Ala1146Thr
NM_018263.6:c.4216G>A MANE Select NP_060733.4:p.Ala1406Thr