Canonical Allele Identifier: CA346076144
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742562T>A , CM000664.2:g.25742562T>A GRCh38
NC_000002.11:g.25965431T>A , CM000664.1:g.25965431T>A GRCh37
NC_000002.10:g.25818935T>A NCBI36
NG_052995.1:g.140955A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3772A>T ENSP00000337250.5:p.Lys1258Ter
ENST00000435504.9:c.3775A>T MANE Select ENSP00000391447.3:p.Lys1259Ter
ENST00000336112.8:c.3691A>T ENSP00000337250.4:p.Lys1231Ter
ENST00000404843.5:c.2224A>T ENSP00000383920.1:p.Lys742Ter
ENST00000435504.8:c.3775A>T ENSP00000391447.3:p.Lys1259Ter
NM_018263.4:c.3775A>T NP_060733.4:p.Lys1259Ter
XM_006712039.2:c.3409A>T XP_006712102.1:p.Lys1137Ter
XM_006712040.1:c.2995A>T XP_006712103.1:p.Lys999Ter
XM_011532950.1:c.3772A>T XP_011531252.1:p.Lys1258Ter
XM_011532951.1:c.3601A>T XP_011531253.1:p.Lys1201Ter
NM_018263.5:c.3775A>T NP_060733.4:p.Lys1259Ter
XM_006712039.3:c.3409A>T XP_006712102.1:p.Lys1137Ter
XM_006712040.2:c.2995A>T XP_006712103.1:p.Lys999Ter
XM_011532950.3:c.3772A>T XP_011531252.1:p.Lys1258Ter
XM_011532951.2:c.3601A>T XP_011531253.1:p.Lys1201Ter
XM_017004430.1:c.2995A>T XP_016859919.1:p.Lys999Ter
XM_024452974.1:c.3955A>T XP_024308742.1:p.Lys1319Ter
NM_001369346.1:c.3601A>T NP_001356275.1:p.Lys1201Ter
NM_001369347.1:c.2995A>T NP_001356276.1:p.Lys999Ter
NM_018263.6:c.3775A>T MANE Select NP_060733.4:p.Lys1259Ter