Canonical Allele Identifier: CA346074834
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742355T>A , CM000664.2:g.25742355T>A GRCh38
NC_000002.11:g.25965224T>A , CM000664.1:g.25965224T>A GRCh37
NC_000002.10:g.25818728T>A NCBI36
NG_052995.1:g.141162A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3979A>T ENSP00000337250.5:p.Arg1327Ter
ENST00000435504.9:c.3982A>T MANE Select ENSP00000391447.3:p.Arg1328Ter
ENST00000336112.8:c.3898A>T ENSP00000337250.4:p.Arg1300Ter
ENST00000404843.5:c.2431A>T ENSP00000383920.1:p.Arg811Ter
ENST00000435504.8:c.3982A>T ENSP00000391447.3:p.Arg1328Ter
NM_018263.4:c.3982A>T NP_060733.4:p.Arg1328Ter
XM_006712039.2:c.3616A>T XP_006712102.1:p.Arg1206Ter
XM_006712040.1:c.3202A>T XP_006712103.1:p.Arg1068Ter
XM_011532950.1:c.3979A>T XP_011531252.1:p.Arg1327Ter
XM_011532951.1:c.3808A>T XP_011531253.1:p.Arg1270Ter
NM_018263.5:c.3982A>T NP_060733.4:p.Arg1328Ter
XM_006712039.3:c.3616A>T XP_006712102.1:p.Arg1206Ter
XM_006712040.2:c.3202A>T XP_006712103.1:p.Arg1068Ter
XM_011532950.3:c.3979A>T XP_011531252.1:p.Arg1327Ter
XM_011532951.2:c.3808A>T XP_011531253.1:p.Arg1270Ter
XM_017004430.1:c.3202A>T XP_016859919.1:p.Arg1068Ter
XM_024452974.1:c.4162A>T XP_024308742.1:p.Arg1388Ter
NM_001369346.1:c.3808A>T NP_001356275.1:p.Arg1270Ter
NM_001369347.1:c.3202A>T NP_001356276.1:p.Arg1068Ter
NM_018263.6:c.3982A>T MANE Select NP_060733.4:p.Arg1328Ter