Canonical Allele Identifier: CA1239490401
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs2087842782

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742310_25742311del , CM000664.2:g.25742310_25742311del GRCh38
NC_000002.11:g.25965179_25965180del , CM000664.1:g.25965179_25965180del GRCh37
NC_000002.10:g.25818683_25818684del NCBI36
NG_052995.1:g.141208_141209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4025_4026del ENSP00000337250.5:p.Ser1342CysfsTer5
ENST00000435504.9:c.4028_4029del MANE Select ENSP00000391447.3:p.Ser1343CysfsTer5
ENST00000336112.8:c.3944_3945del ENSP00000337250.4:p.Ser1315CysfsTer5
ENST00000404843.5:c.2477_2478del ENSP00000383920.1:p.Ser826CysfsTer5
ENST00000435504.8:c.4028_4029del ENSP00000391447.3:p.Ser1343CysfsTer5
NM_018263.4:c.4028_4029del NP_060733.4:p.Ser1343CysfsTer5
XM_006712039.2:c.3662_3663del XP_006712102.1:p.Ser1221CysfsTer5
XM_006712040.1:c.3248_3249del XP_006712103.1:p.Ser1083CysfsTer5
XM_011532950.1:c.4025_4026del XP_011531252.1:p.Ser1342CysfsTer5
XM_011532951.1:c.3854_3855del XP_011531253.1:p.Ser1285CysfsTer5
NM_018263.5:c.4028_4029del NP_060733.4:p.Ser1343CysfsTer5
XM_006712039.3:c.3662_3663del XP_006712102.1:p.Ser1221CysfsTer5
XM_006712040.2:c.3248_3249del XP_006712103.1:p.Ser1083CysfsTer5
XM_011532950.3:c.4025_4026del XP_011531252.1:p.Ser1342CysfsTer5
XM_011532951.2:c.3854_3855del XP_011531253.1:p.Ser1285CysfsTer5
XM_017004430.1:c.3248_3249del XP_016859919.1:p.Ser1083CysfsTer5
XM_024452974.1:c.4208_4209del XP_024308742.1:p.Ser1403CysfsTer5
NM_001369346.1:c.3854_3855del NP_001356275.1:p.Ser1285CysfsTer5
NM_001369347.1:c.3248_3249del NP_001356276.1:p.Ser1083CysfsTer5
NM_018263.6:c.4028_4029del MANE Select NP_060733.4:p.Ser1343CysfsTer5