Canonical Allele Identifier: CA346076283
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742582C>T , CM000664.2:g.25742582C>T GRCh38
NC_000002.11:g.25965451C>T , CM000664.1:g.25965451C>T GRCh37
NC_000002.10:g.25818955C>T NCBI36
NG_052995.1:g.140935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3752G>A ENSP00000337250.5:p.Arg1251Lys
ENST00000435504.9:c.3755G>A MANE Select ENSP00000391447.3:p.Arg1252Lys
ENST00000336112.8:c.3671G>A ENSP00000337250.4:p.Arg1224Lys
ENST00000404843.5:c.2204G>A ENSP00000383920.1:p.Arg735Lys
ENST00000435504.8:c.3755G>A ENSP00000391447.3:p.Arg1252Lys
NM_018263.4:c.3755G>A NP_060733.4:p.Arg1252Lys
XM_006712039.2:c.3389G>A XP_006712102.1:p.Arg1130Lys
XM_006712040.1:c.2975G>A XP_006712103.1:p.Arg992Lys
XM_011532950.1:c.3752G>A XP_011531252.1:p.Arg1251Lys
XM_011532951.1:c.3581G>A XP_011531253.1:p.Arg1194Lys
NM_018263.5:c.3755G>A NP_060733.4:p.Arg1252Lys
XM_006712039.3:c.3389G>A XP_006712102.1:p.Arg1130Lys
XM_006712040.2:c.2975G>A XP_006712103.1:p.Arg992Lys
XM_011532950.3:c.3752G>A XP_011531252.1:p.Arg1251Lys
XM_011532951.2:c.3581G>A XP_011531253.1:p.Arg1194Lys
XM_017004430.1:c.2975G>A XP_016859919.1:p.Arg992Lys
XM_024452974.1:c.3935G>A XP_024308742.1:p.Arg1312Lys
NM_001369346.1:c.3581G>A NP_001356275.1:p.Arg1194Lys
NM_001369347.1:c.2975G>A NP_001356276.1:p.Arg992Lys
NM_018263.6:c.3755G>A MANE Select NP_060733.4:p.Arg1252Lys