Canonical Allele Identifier: CA346075544
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742470G>T , CM000664.2:g.25742470G>T GRCh38
NC_000002.11:g.25965339G>T , CM000664.1:g.25965339G>T GRCh37
NC_000002.10:g.25818843G>T NCBI36
NG_052995.1:g.141047C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3864C>A ENSP00000337250.5:p.Phe1288Leu
ENST00000435504.9:c.3867C>A MANE Select ENSP00000391447.3:p.Phe1289Leu
ENST00000336112.8:c.3783C>A ENSP00000337250.4:p.Phe1261Leu
ENST00000404843.5:c.2316C>A ENSP00000383920.1:p.Phe772Leu
ENST00000435504.8:c.3867C>A ENSP00000391447.3:p.Phe1289Leu
NM_018263.4:c.3867C>A NP_060733.4:p.Phe1289Leu
XM_006712039.2:c.3501C>A XP_006712102.1:p.Phe1167Leu
XM_006712040.1:c.3087C>A XP_006712103.1:p.Phe1029Leu
XM_011532950.1:c.3864C>A XP_011531252.1:p.Phe1288Leu
XM_011532951.1:c.3693C>A XP_011531253.1:p.Phe1231Leu
NM_018263.5:c.3867C>A NP_060733.4:p.Phe1289Leu
XM_006712039.3:c.3501C>A XP_006712102.1:p.Phe1167Leu
XM_006712040.2:c.3087C>A XP_006712103.1:p.Phe1029Leu
XM_011532950.3:c.3864C>A XP_011531252.1:p.Phe1288Leu
XM_011532951.2:c.3693C>A XP_011531253.1:p.Phe1231Leu
XM_017004430.1:c.3087C>A XP_016859919.1:p.Phe1029Leu
XM_024452974.1:c.4047C>A XP_024308742.1:p.Phe1349Leu
NM_001369346.1:c.3693C>A NP_001356275.1:p.Phe1231Leu
NM_001369347.1:c.3087C>A NP_001356276.1:p.Phe1029Leu
NM_018263.6:c.3867C>A MANE Select NP_060733.4:p.Phe1289Leu