Canonical Allele Identifier: CA346076279
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1438565703
gnomAD v2: 2-25965451-C-G
gnomAD v3: 2-25742582-C-G
gnomAD v4: 2-25742582-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3752G>C ENSP00000337250.5:p.Arg1251Thr
ENST00000435504.9:c.3755G>C MANE Select ENSP00000391447.3:p.Arg1252Thr
ENST00000336112.8:c.3671G>C ENSP00000337250.4:p.Arg1224Thr
ENST00000404843.5:c.2204G>C ENSP00000383920.1:p.Arg735Thr
ENST00000435504.8:c.3755G>C ENSP00000391447.3:p.Arg1252Thr
NM_018263.4:c.3755G>C NP_060733.4:p.Arg1252Thr
XM_006712039.2:c.3389G>C XP_006712102.1:p.Arg1130Thr
XM_006712040.1:c.2975G>C XP_006712103.1:p.Arg992Thr
XM_011532950.1:c.3752G>C XP_011531252.1:p.Arg1251Thr
XM_011532951.1:c.3581G>C XP_011531253.1:p.Arg1194Thr
NM_018263.5:c.3755G>C NP_060733.4:p.Arg1252Thr
XM_006712039.3:c.3389G>C XP_006712102.1:p.Arg1130Thr
XM_006712040.2:c.2975G>C XP_006712103.1:p.Arg992Thr
XM_011532950.3:c.3752G>C XP_011531252.1:p.Arg1251Thr
XM_011532951.2:c.3581G>C XP_011531253.1:p.Arg1194Thr
XM_017004430.1:c.2975G>C XP_016859919.1:p.Arg992Thr
XM_024452974.1:c.3935G>C XP_024308742.1:p.Arg1312Thr
NM_001369346.1:c.3581G>C NP_001356275.1:p.Arg1194Thr
NM_001369347.1:c.2975G>C NP_001356276.1:p.Arg992Thr
NM_018263.6:c.3755G>C MANE Select NP_060733.4:p.Arg1252Thr