Canonical Allele Identifier: CA43734121
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs542810776
gnomAD v2: 2-25964902-C-T
gnomAD v3: 2-25742033-C-T
gnomAD v4: 2-25742033-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742033C>T , CM000664.2:g.25742033C>T GRCh38
NC_000002.11:g.25964902C>T , CM000664.1:g.25964902C>T GRCh37
NC_000002.10:g.25818406C>T NCBI36
NG_052995.1:g.141484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4301G>A ENSP00000337250.5:p.Arg1434Gln
ENST00000435504.9:c.4304G>A MANE Select ENSP00000391447.3:p.Arg1435Gln
ENST00000336112.8:c.4220G>A ENSP00000337250.4:p.Arg1407Gln
ENST00000404843.5:c.2753G>A ENSP00000383920.1:p.Arg918Gln
ENST00000435504.8:c.4304G>A ENSP00000391447.3:p.Arg1435Gln
NM_018263.4:c.4304G>A NP_060733.4:p.Arg1435Gln
XM_006712039.2:c.3938G>A XP_006712102.1:p.Arg1313Gln
XM_006712040.1:c.3524G>A XP_006712103.1:p.Arg1175Gln
XM_011532950.1:c.4301G>A XP_011531252.1:p.Arg1434Gln
XM_011532951.1:c.4130G>A XP_011531253.1:p.Arg1377Gln
NM_018263.5:c.4304G>A NP_060733.4:p.Arg1435Gln
XM_006712039.3:c.3938G>A XP_006712102.1:p.Arg1313Gln
XM_006712040.2:c.3524G>A XP_006712103.1:p.Arg1175Gln
XM_011532950.3:c.4301G>A XP_011531252.1:p.Arg1434Gln
XM_011532951.2:c.4130G>A XP_011531253.1:p.Arg1377Gln
XM_017004430.1:c.3524G>A XP_016859919.1:p.Arg1175Gln
XM_024452974.1:c.4484G>A XP_024308742.1:p.Arg1495Gln
NM_001369346.1:c.4130G>A NP_001356275.1:p.Arg1377Gln
NM_001369347.1:c.3524G>A NP_001356276.1:p.Arg1175Gln
NM_018263.6:c.4304G>A MANE Select NP_060733.4:p.Arg1435Gln