Canonical Allele Identifier: CA346073940
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742225T>A , CM000664.2:g.25742225T>A GRCh38
NC_000002.11:g.25965094T>A , CM000664.1:g.25965094T>A GRCh37
NC_000002.10:g.25818598T>A NCBI36
NG_052995.1:g.141292A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4109A>T ENSP00000337250.5:p.Gln1370Leu
ENST00000435504.9:c.4112A>T MANE Select ENSP00000391447.3:p.Gln1371Leu
ENST00000336112.8:c.4028A>T ENSP00000337250.4:p.Gln1343Leu
ENST00000404843.5:c.2561A>T ENSP00000383920.1:p.Gln854Leu
ENST00000435504.8:c.4112A>T ENSP00000391447.3:p.Gln1371Leu
NM_018263.4:c.4112A>T NP_060733.4:p.Gln1371Leu
XM_006712039.2:c.3746A>T XP_006712102.1:p.Gln1249Leu
XM_006712040.1:c.3332A>T XP_006712103.1:p.Gln1111Leu
XM_011532950.1:c.4109A>T XP_011531252.1:p.Gln1370Leu
XM_011532951.1:c.3938A>T XP_011531253.1:p.Gln1313Leu
NM_018263.5:c.4112A>T NP_060733.4:p.Gln1371Leu
XM_006712039.3:c.3746A>T XP_006712102.1:p.Gln1249Leu
XM_006712040.2:c.3332A>T XP_006712103.1:p.Gln1111Leu
XM_011532950.3:c.4109A>T XP_011531252.1:p.Gln1370Leu
XM_011532951.2:c.3938A>T XP_011531253.1:p.Gln1313Leu
XM_017004430.1:c.3332A>T XP_016859919.1:p.Gln1111Leu
XM_024452974.1:c.4292A>T XP_024308742.1:p.Gln1431Leu
NM_001369346.1:c.3938A>T NP_001356275.1:p.Gln1313Leu
NM_001369347.1:c.3332A>T NP_001356276.1:p.Gln1111Leu
NM_018263.6:c.4112A>T MANE Select NP_060733.4:p.Gln1371Leu