Canonical Allele Identifier: CA346075033
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742381C>A , CM000664.2:g.25742381C>A GRCh38
NC_000002.11:g.25965250C>A , CM000664.1:g.25965250C>A GRCh37
NC_000002.10:g.25818754C>A NCBI36
NG_052995.1:g.141136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3953G>T ENSP00000337250.5:p.Ser1318Ile
ENST00000435504.9:c.3956G>T MANE Select ENSP00000391447.3:p.Ser1319Ile
ENST00000336112.8:c.3872G>T ENSP00000337250.4:p.Ser1291Ile
ENST00000404843.5:c.2405G>T ENSP00000383920.1:p.Ser802Ile
ENST00000435504.8:c.3956G>T ENSP00000391447.3:p.Ser1319Ile
NM_018263.4:c.3956G>T NP_060733.4:p.Ser1319Ile
XM_006712039.2:c.3590G>T XP_006712102.1:p.Ser1197Ile
XM_006712040.1:c.3176G>T XP_006712103.1:p.Ser1059Ile
XM_011532950.1:c.3953G>T XP_011531252.1:p.Ser1318Ile
XM_011532951.1:c.3782G>T XP_011531253.1:p.Ser1261Ile
NM_018263.5:c.3956G>T NP_060733.4:p.Ser1319Ile
XM_006712039.3:c.3590G>T XP_006712102.1:p.Ser1197Ile
XM_006712040.2:c.3176G>T XP_006712103.1:p.Ser1059Ile
XM_011532950.3:c.3953G>T XP_011531252.1:p.Ser1318Ile
XM_011532951.2:c.3782G>T XP_011531253.1:p.Ser1261Ile
XM_017004430.1:c.3176G>T XP_016859919.1:p.Ser1059Ile
XM_024452974.1:c.4136G>T XP_024308742.1:p.Ser1379Ile
NM_001369346.1:c.3782G>T NP_001356275.1:p.Ser1261Ile
NM_001369347.1:c.3176G>T NP_001356276.1:p.Ser1059Ile
NM_018263.6:c.3956G>T MANE Select NP_060733.4:p.Ser1319Ile