Canonical Allele Identifier: CA346073808
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742198T>A , CM000664.2:g.25742198T>A GRCh38
NC_000002.11:g.25965067T>A , CM000664.1:g.25965067T>A GRCh37
NC_000002.10:g.25818571T>A NCBI36
NG_052995.1:g.141319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4136A>T ENSP00000337250.5:p.Gln1379Leu
ENST00000435504.9:c.4139A>T MANE Select ENSP00000391447.3:p.Gln1380Leu
ENST00000336112.8:c.4055A>T ENSP00000337250.4:p.Gln1352Leu
ENST00000404843.5:c.2588A>T ENSP00000383920.1:p.Gln863Leu
ENST00000435504.8:c.4139A>T ENSP00000391447.3:p.Gln1380Leu
NM_018263.4:c.4139A>T NP_060733.4:p.Gln1380Leu
XM_006712039.2:c.3773A>T XP_006712102.1:p.Gln1258Leu
XM_006712040.1:c.3359A>T XP_006712103.1:p.Gln1120Leu
XM_011532950.1:c.4136A>T XP_011531252.1:p.Gln1379Leu
XM_011532951.1:c.3965A>T XP_011531253.1:p.Gln1322Leu
NM_018263.5:c.4139A>T NP_060733.4:p.Gln1380Leu
XM_006712039.3:c.3773A>T XP_006712102.1:p.Gln1258Leu
XM_006712040.2:c.3359A>T XP_006712103.1:p.Gln1120Leu
XM_011532950.3:c.4136A>T XP_011531252.1:p.Gln1379Leu
XM_011532951.2:c.3965A>T XP_011531253.1:p.Gln1322Leu
XM_017004430.1:c.3359A>T XP_016859919.1:p.Gln1120Leu
XM_024452974.1:c.4319A>T XP_024308742.1:p.Gln1440Leu
NM_001369346.1:c.3965A>T NP_001356275.1:p.Gln1322Leu
NM_001369347.1:c.3359A>T NP_001356276.1:p.Gln1120Leu
NM_018263.6:c.4139A>T MANE Select NP_060733.4:p.Gln1380Leu