Canonical Allele Identifier: CA43734153
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs546352636
gnomAD v4: 2-25742130-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742130G>C , CM000664.2:g.25742130G>C GRCh38
NC_000002.11:g.25964999G>C , CM000664.1:g.25964999G>C GRCh37
NC_000002.10:g.25818503G>C NCBI36
NG_052995.1:g.141387C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4204C>G ENSP00000337250.5:p.Arg1402Gly
ENST00000435504.9:c.4207C>G MANE Select ENSP00000391447.3:p.Arg1403Gly
ENST00000336112.8:c.4123C>G ENSP00000337250.4:p.Arg1375Gly
ENST00000404843.5:c.2656C>G ENSP00000383920.1:p.Arg886Gly
ENST00000435504.8:c.4207C>G ENSP00000391447.3:p.Arg1403Gly
NM_018263.4:c.4207C>G NP_060733.4:p.Arg1403Gly
XM_006712039.2:c.3841C>G XP_006712102.1:p.Arg1281Gly
XM_006712040.1:c.3427C>G XP_006712103.1:p.Arg1143Gly
XM_011532950.1:c.4204C>G XP_011531252.1:p.Arg1402Gly
XM_011532951.1:c.4033C>G XP_011531253.1:p.Arg1345Gly
NM_018263.5:c.4207C>G NP_060733.4:p.Arg1403Gly
XM_006712039.3:c.3841C>G XP_006712102.1:p.Arg1281Gly
XM_006712040.2:c.3427C>G XP_006712103.1:p.Arg1143Gly
XM_011532950.3:c.4204C>G XP_011531252.1:p.Arg1402Gly
XM_011532951.2:c.4033C>G XP_011531253.1:p.Arg1345Gly
XM_017004430.1:c.3427C>G XP_016859919.1:p.Arg1143Gly
XM_024452974.1:c.4387C>G XP_024308742.1:p.Arg1463Gly
NM_001369346.1:c.4033C>G NP_001356275.1:p.Arg1345Gly
NM_001369347.1:c.3427C>G NP_001356276.1:p.Arg1143Gly
NM_018263.6:c.4207C>G MANE Select NP_060733.4:p.Arg1403Gly