Canonical Allele Identifier: CA346074616
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742327G>A , CM000664.2:g.25742327G>A GRCh38
NC_000002.11:g.25965196G>A , CM000664.1:g.25965196G>A GRCh37
NC_000002.10:g.25818700G>A NCBI36
NG_052995.1:g.141190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4007C>T ENSP00000337250.5:p.Ser1336Phe
ENST00000435504.9:c.4010C>T MANE Select ENSP00000391447.3:p.Ser1337Phe
ENST00000336112.8:c.3926C>T ENSP00000337250.4:p.Ser1309Phe
ENST00000404843.5:c.2459C>T ENSP00000383920.1:p.Ser820Phe
ENST00000435504.8:c.4010C>T ENSP00000391447.3:p.Ser1337Phe
NM_018263.4:c.4010C>T NP_060733.4:p.Ser1337Phe
XM_006712039.2:c.3644C>T XP_006712102.1:p.Ser1215Phe
XM_006712040.1:c.3230C>T XP_006712103.1:p.Ser1077Phe
XM_011532950.1:c.4007C>T XP_011531252.1:p.Ser1336Phe
XM_011532951.1:c.3836C>T XP_011531253.1:p.Ser1279Phe
NM_018263.5:c.4010C>T NP_060733.4:p.Ser1337Phe
XM_006712039.3:c.3644C>T XP_006712102.1:p.Ser1215Phe
XM_006712040.2:c.3230C>T XP_006712103.1:p.Ser1077Phe
XM_011532950.3:c.4007C>T XP_011531252.1:p.Ser1336Phe
XM_011532951.2:c.3836C>T XP_011531253.1:p.Ser1279Phe
XM_017004430.1:c.3230C>T XP_016859919.1:p.Ser1077Phe
XM_024452974.1:c.4190C>T XP_024308742.1:p.Ser1397Phe
NM_001369346.1:c.3836C>T NP_001356275.1:p.Ser1279Phe
NM_001369347.1:c.3230C>T NP_001356276.1:p.Ser1077Phe
NM_018263.6:c.4010C>T MANE Select NP_060733.4:p.Ser1337Phe