Canonical Allele Identifier: CA346076080
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742548T>A , CM000664.2:g.25742548T>A GRCh38
NC_000002.11:g.25965417T>A , CM000664.1:g.25965417T>A GRCh37
NC_000002.10:g.25818921T>A NCBI36
NG_052995.1:g.140969A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3786A>T ENSP00000337250.5:p.Arg1262Ser
ENST00000435504.9:c.3789A>T MANE Select ENSP00000391447.3:p.Arg1263Ser
ENST00000336112.8:c.3705A>T ENSP00000337250.4:p.Arg1235Ser
ENST00000404843.5:c.2238A>T ENSP00000383920.1:p.Arg746Ser
ENST00000435504.8:c.3789A>T ENSP00000391447.3:p.Arg1263Ser
NM_018263.4:c.3789A>T NP_060733.4:p.Arg1263Ser
XM_006712039.2:c.3423A>T XP_006712102.1:p.Arg1141Ser
XM_006712040.1:c.3009A>T XP_006712103.1:p.Arg1003Ser
XM_011532950.1:c.3786A>T XP_011531252.1:p.Arg1262Ser
XM_011532951.1:c.3615A>T XP_011531253.1:p.Arg1205Ser
NM_018263.5:c.3789A>T NP_060733.4:p.Arg1263Ser
XM_006712039.3:c.3423A>T XP_006712102.1:p.Arg1141Ser
XM_006712040.2:c.3009A>T XP_006712103.1:p.Arg1003Ser
XM_011532950.3:c.3786A>T XP_011531252.1:p.Arg1262Ser
XM_011532951.2:c.3615A>T XP_011531253.1:p.Arg1205Ser
XM_017004430.1:c.3009A>T XP_016859919.1:p.Arg1003Ser
XM_024452974.1:c.3969A>T XP_024308742.1:p.Arg1323Ser
NM_001369346.1:c.3615A>T NP_001356275.1:p.Arg1205Ser
NM_001369347.1:c.3009A>T NP_001356276.1:p.Arg1003Ser
NM_018263.6:c.3789A>T MANE Select NP_060733.4:p.Arg1263Ser