Canonical Allele Identifier: CA346076208
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1399548423
gnomAD v3: 2-25742570-A-C
gnomAD v4: 2-25742570-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742570A>C , CM000664.2:g.25742570A>C GRCh38
NC_000002.11:g.25965439A>C , CM000664.1:g.25965439A>C GRCh37
NC_000002.10:g.25818943A>C NCBI36
NG_052995.1:g.140947T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3764T>G ENSP00000337250.5:p.Phe1255Cys
ENST00000435504.9:c.3767T>G MANE Select ENSP00000391447.3:p.Phe1256Cys
ENST00000336112.8:c.3683T>G ENSP00000337250.4:p.Phe1228Cys
ENST00000404843.5:c.2216T>G ENSP00000383920.1:p.Phe739Cys
ENST00000435504.8:c.3767T>G ENSP00000391447.3:p.Phe1256Cys
NM_018263.4:c.3767T>G NP_060733.4:p.Phe1256Cys
XM_006712039.2:c.3401T>G XP_006712102.1:p.Phe1134Cys
XM_006712040.1:c.2987T>G XP_006712103.1:p.Phe996Cys
XM_011532950.1:c.3764T>G XP_011531252.1:p.Phe1255Cys
XM_011532951.1:c.3593T>G XP_011531253.1:p.Phe1198Cys
NM_018263.5:c.3767T>G NP_060733.4:p.Phe1256Cys
XM_006712039.3:c.3401T>G XP_006712102.1:p.Phe1134Cys
XM_006712040.2:c.2987T>G XP_006712103.1:p.Phe996Cys
XM_011532950.3:c.3764T>G XP_011531252.1:p.Phe1255Cys
XM_011532951.2:c.3593T>G XP_011531253.1:p.Phe1198Cys
XM_017004430.1:c.2987T>G XP_016859919.1:p.Phe996Cys
XM_024452974.1:c.3947T>G XP_024308742.1:p.Phe1316Cys
NM_001369346.1:c.3593T>G NP_001356275.1:p.Phe1198Cys
NM_001369347.1:c.2987T>G NP_001356276.1:p.Phe996Cys
NM_018263.6:c.3767T>G MANE Select NP_060733.4:p.Phe1256Cys