Canonical Allele Identifier: CA346073718
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742156T>A , CM000664.2:g.25742156T>A GRCh38
NC_000002.11:g.25965025T>A , CM000664.1:g.25965025T>A GRCh37
NC_000002.10:g.25818529T>A NCBI36
NG_052995.1:g.141361A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4178A>T ENSP00000337250.5:p.Glu1393Val
ENST00000435504.9:c.4181A>T MANE Select ENSP00000391447.3:p.Glu1394Val
ENST00000336112.8:c.4097A>T ENSP00000337250.4:p.Glu1366Val
ENST00000404843.5:c.2630A>T ENSP00000383920.1:p.Glu877Val
ENST00000435504.8:c.4181A>T ENSP00000391447.3:p.Glu1394Val
NM_018263.4:c.4181A>T NP_060733.4:p.Glu1394Val
XM_006712039.2:c.3815A>T XP_006712102.1:p.Glu1272Val
XM_006712040.1:c.3401A>T XP_006712103.1:p.Glu1134Val
XM_011532950.1:c.4178A>T XP_011531252.1:p.Glu1393Val
XM_011532951.1:c.4007A>T XP_011531253.1:p.Glu1336Val
NM_018263.5:c.4181A>T NP_060733.4:p.Glu1394Val
XM_006712039.3:c.3815A>T XP_006712102.1:p.Glu1272Val
XM_006712040.2:c.3401A>T XP_006712103.1:p.Glu1134Val
XM_011532950.3:c.4178A>T XP_011531252.1:p.Glu1393Val
XM_011532951.2:c.4007A>T XP_011531253.1:p.Glu1336Val
XM_017004430.1:c.3401A>T XP_016859919.1:p.Glu1134Val
XM_024452974.1:c.4361A>T XP_024308742.1:p.Glu1454Val
NM_001369346.1:c.4007A>T NP_001356275.1:p.Glu1336Val
NM_001369347.1:c.3401A>T NP_001356276.1:p.Glu1134Val
NM_018263.6:c.4181A>T MANE Select NP_060733.4:p.Glu1394Val