Canonical Allele Identifier: CA346073574
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742091A>T , CM000664.2:g.25742091A>T GRCh38
NC_000002.11:g.25964960A>T , CM000664.1:g.25964960A>T GRCh37
NC_000002.10:g.25818464A>T NCBI36
NG_052995.1:g.141426T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4243T>A ENSP00000337250.5:p.Phe1415Ile
ENST00000435504.9:c.4246T>A MANE Select ENSP00000391447.3:p.Phe1416Ile
ENST00000336112.8:c.4162T>A ENSP00000337250.4:p.Phe1388Ile
ENST00000404843.5:c.2695T>A ENSP00000383920.1:p.Phe899Ile
ENST00000435504.8:c.4246T>A ENSP00000391447.3:p.Phe1416Ile
NM_018263.4:c.4246T>A NP_060733.4:p.Phe1416Ile
XM_006712039.2:c.3880T>A XP_006712102.1:p.Phe1294Ile
XM_006712040.1:c.3466T>A XP_006712103.1:p.Phe1156Ile
XM_011532950.1:c.4243T>A XP_011531252.1:p.Phe1415Ile
XM_011532951.1:c.4072T>A XP_011531253.1:p.Phe1358Ile
NM_018263.5:c.4246T>A NP_060733.4:p.Phe1416Ile
XM_006712039.3:c.3880T>A XP_006712102.1:p.Phe1294Ile
XM_006712040.2:c.3466T>A XP_006712103.1:p.Phe1156Ile
XM_011532950.3:c.4243T>A XP_011531252.1:p.Phe1415Ile
XM_011532951.2:c.4072T>A XP_011531253.1:p.Phe1358Ile
XM_017004430.1:c.3466T>A XP_016859919.1:p.Phe1156Ile
XM_024452974.1:c.4426T>A XP_024308742.1:p.Phe1476Ile
NM_001369346.1:c.4072T>A NP_001356275.1:p.Phe1358Ile
NM_001369347.1:c.3466T>A NP_001356276.1:p.Phe1156Ile
NM_018263.6:c.4246T>A MANE Select NP_060733.4:p.Phe1416Ile