Canonical Allele Identifier: CA1557358
Gene: ASXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634618
dbSNP Id: rs773402627
gnomAD v2: 2-25965088-A-G
gnomAD v4: 2-25742219-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742219A>G , CM000664.2:g.25742219A>G GRCh38
NC_000002.11:g.25965088A>G , CM000664.1:g.25965088A>G GRCh37
NC_000002.10:g.25818592A>G NCBI36
NG_052995.1:g.141298T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4115T>C ENSP00000337250.5:p.Met1372Thr
ENST00000435504.9:c.4118T>C MANE Select ENSP00000391447.3:p.Met1373Thr
ENST00000336112.8:c.4034T>C ENSP00000337250.4:p.Met1345Thr
ENST00000404843.5:c.2567T>C ENSP00000383920.1:p.Met856Thr
ENST00000435504.8:c.4118T>C ENSP00000391447.3:p.Met1373Thr
NM_018263.4:c.4118T>C NP_060733.4:p.Met1373Thr
XM_006712039.2:c.3752T>C XP_006712102.1:p.Met1251Thr
XM_006712040.1:c.3338T>C XP_006712103.1:p.Met1113Thr
XM_011532950.1:c.4115T>C XP_011531252.1:p.Met1372Thr
XM_011532951.1:c.3944T>C XP_011531253.1:p.Met1315Thr
NM_018263.5:c.4118T>C NP_060733.4:p.Met1373Thr
XM_006712039.3:c.3752T>C XP_006712102.1:p.Met1251Thr
XM_006712040.2:c.3338T>C XP_006712103.1:p.Met1113Thr
XM_011532950.3:c.4115T>C XP_011531252.1:p.Met1372Thr
XM_011532951.2:c.3944T>C XP_011531253.1:p.Met1315Thr
XM_017004430.1:c.3338T>C XP_016859919.1:p.Met1113Thr
XM_024452974.1:c.4298T>C XP_024308742.1:p.Met1433Thr
NM_001369346.1:c.3944T>C NP_001356275.1:p.Met1315Thr
NM_001369347.1:c.3338T>C NP_001356276.1:p.Met1113Thr
NM_018263.6:c.4118T>C MANE Select NP_060733.4:p.Met1373Thr