Canonical Allele Identifier: CA346075281
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1574389146
gnomAD v3: 2-25742426-T-G
gnomAD v4: 2-25742426-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742426T>G , CM000664.2:g.25742426T>G GRCh38
NC_000002.11:g.25965295T>G , CM000664.1:g.25965295T>G GRCh37
NC_000002.10:g.25818799T>G NCBI36
NG_052995.1:g.141091A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3908A>C ENSP00000337250.5:p.Gln1303Pro
ENST00000435504.9:c.3911A>C MANE Select ENSP00000391447.3:p.Gln1304Pro
ENST00000336112.8:c.3827A>C ENSP00000337250.4:p.Gln1276Pro
ENST00000404843.5:c.2360A>C ENSP00000383920.1:p.Gln787Pro
ENST00000435504.8:c.3911A>C ENSP00000391447.3:p.Gln1304Pro
NM_018263.4:c.3911A>C NP_060733.4:p.Gln1304Pro
XM_006712039.2:c.3545A>C XP_006712102.1:p.Gln1182Pro
XM_006712040.1:c.3131A>C XP_006712103.1:p.Gln1044Pro
XM_011532950.1:c.3908A>C XP_011531252.1:p.Gln1303Pro
XM_011532951.1:c.3737A>C XP_011531253.1:p.Gln1246Pro
NM_018263.5:c.3911A>C NP_060733.4:p.Gln1304Pro
XM_006712039.3:c.3545A>C XP_006712102.1:p.Gln1182Pro
XM_006712040.2:c.3131A>C XP_006712103.1:p.Gln1044Pro
XM_011532950.3:c.3908A>C XP_011531252.1:p.Gln1303Pro
XM_011532951.2:c.3737A>C XP_011531253.1:p.Gln1246Pro
XM_017004430.1:c.3131A>C XP_016859919.1:p.Gln1044Pro
XM_024452974.1:c.4091A>C XP_024308742.1:p.Gln1364Pro
NM_001369346.1:c.3737A>C NP_001356275.1:p.Gln1246Pro
NM_001369347.1:c.3131A>C NP_001356276.1:p.Gln1044Pro
NM_018263.6:c.3911A>C MANE Select NP_060733.4:p.Gln1304Pro