Canonical Allele Identifier: CA346075663
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742490G>T , CM000664.2:g.25742490G>T GRCh38
NC_000002.11:g.25965359G>T , CM000664.1:g.25965359G>T GRCh37
NC_000002.10:g.25818863G>T NCBI36
NG_052995.1:g.141027C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3844C>A ENSP00000337250.5:p.Arg1282Ser
ENST00000435504.9:c.3847C>A MANE Select ENSP00000391447.3:p.Arg1283Ser
ENST00000336112.8:c.3763C>A ENSP00000337250.4:p.Arg1255Ser
ENST00000404843.5:c.2296C>A ENSP00000383920.1:p.Arg766Ser
ENST00000435504.8:c.3847C>A ENSP00000391447.3:p.Arg1283Ser
NM_018263.4:c.3847C>A NP_060733.4:p.Arg1283Ser
XM_006712039.2:c.3481C>A XP_006712102.1:p.Arg1161Ser
XM_006712040.1:c.3067C>A XP_006712103.1:p.Arg1023Ser
XM_011532950.1:c.3844C>A XP_011531252.1:p.Arg1282Ser
XM_011532951.1:c.3673C>A XP_011531253.1:p.Arg1225Ser
NM_018263.5:c.3847C>A NP_060733.4:p.Arg1283Ser
XM_006712039.3:c.3481C>A XP_006712102.1:p.Arg1161Ser
XM_006712040.2:c.3067C>A XP_006712103.1:p.Arg1023Ser
XM_011532950.3:c.3844C>A XP_011531252.1:p.Arg1282Ser
XM_011532951.2:c.3673C>A XP_011531253.1:p.Arg1225Ser
XM_017004430.1:c.3067C>A XP_016859919.1:p.Arg1023Ser
XM_024452974.1:c.4027C>A XP_024308742.1:p.Arg1343Ser
NM_001369346.1:c.3673C>A NP_001356275.1:p.Arg1225Ser
NM_001369347.1:c.3067C>A NP_001356276.1:p.Arg1023Ser
NM_018263.6:c.3847C>A MANE Select NP_060733.4:p.Arg1283Ser