Canonical Allele Identifier: CA346073858
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742210C>A , CM000664.2:g.25742210C>A GRCh38
NC_000002.11:g.25965079C>A , CM000664.1:g.25965079C>A GRCh37
NC_000002.10:g.25818583C>A NCBI36
NG_052995.1:g.141307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4124G>T ENSP00000337250.5:p.Ser1375Ile
ENST00000435504.9:c.4127G>T MANE Select ENSP00000391447.3:p.Ser1376Ile
ENST00000336112.8:c.4043G>T ENSP00000337250.4:p.Ser1348Ile
ENST00000404843.5:c.2576G>T ENSP00000383920.1:p.Ser859Ile
ENST00000435504.8:c.4127G>T ENSP00000391447.3:p.Ser1376Ile
NM_018263.4:c.4127G>T NP_060733.4:p.Ser1376Ile
XM_006712039.2:c.3761G>T XP_006712102.1:p.Ser1254Ile
XM_006712040.1:c.3347G>T XP_006712103.1:p.Ser1116Ile
XM_011532950.1:c.4124G>T XP_011531252.1:p.Ser1375Ile
XM_011532951.1:c.3953G>T XP_011531253.1:p.Ser1318Ile
NM_018263.5:c.4127G>T NP_060733.4:p.Ser1376Ile
XM_006712039.3:c.3761G>T XP_006712102.1:p.Ser1254Ile
XM_006712040.2:c.3347G>T XP_006712103.1:p.Ser1116Ile
XM_011532950.3:c.4124G>T XP_011531252.1:p.Ser1375Ile
XM_011532951.2:c.3953G>T XP_011531253.1:p.Ser1318Ile
XM_017004430.1:c.3347G>T XP_016859919.1:p.Ser1116Ile
XM_024452974.1:c.4307G>T XP_024308742.1:p.Ser1436Ile
NM_001369346.1:c.3953G>T NP_001356275.1:p.Ser1318Ile
NM_001369347.1:c.3347G>T NP_001356276.1:p.Ser1116Ile
NM_018263.6:c.4127G>T MANE Select NP_060733.4:p.Ser1376Ile