Canonical Allele Identifier: CA346075983
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742535C>G , CM000664.2:g.25742535C>G GRCh38
NC_000002.11:g.25965404C>G , CM000664.1:g.25965404C>G GRCh37
NC_000002.10:g.25818908C>G NCBI36
NG_052995.1:g.140982G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3799G>C ENSP00000337250.5:p.Ala1267Pro
ENST00000435504.9:c.3802G>C MANE Select ENSP00000391447.3:p.Ala1268Pro
ENST00000336112.8:c.3718G>C ENSP00000337250.4:p.Ala1240Pro
ENST00000404843.5:c.2251G>C ENSP00000383920.1:p.Ala751Pro
ENST00000435504.8:c.3802G>C ENSP00000391447.3:p.Ala1268Pro
NM_018263.4:c.3802G>C NP_060733.4:p.Ala1268Pro
XM_006712039.2:c.3436G>C XP_006712102.1:p.Ala1146Pro
XM_006712040.1:c.3022G>C XP_006712103.1:p.Ala1008Pro
XM_011532950.1:c.3799G>C XP_011531252.1:p.Ala1267Pro
XM_011532951.1:c.3628G>C XP_011531253.1:p.Ala1210Pro
NM_018263.5:c.3802G>C NP_060733.4:p.Ala1268Pro
XM_006712039.3:c.3436G>C XP_006712102.1:p.Ala1146Pro
XM_006712040.2:c.3022G>C XP_006712103.1:p.Ala1008Pro
XM_011532950.3:c.3799G>C XP_011531252.1:p.Ala1267Pro
XM_011532951.2:c.3628G>C XP_011531253.1:p.Ala1210Pro
XM_017004430.1:c.3022G>C XP_016859919.1:p.Ala1008Pro
XM_024452974.1:c.3982G>C XP_024308742.1:p.Ala1328Pro
NM_001369346.1:c.3628G>C NP_001356275.1:p.Ala1210Pro
NM_001369347.1:c.3022G>C NP_001356276.1:p.Ala1008Pro
NM_018263.6:c.3802G>C MANE Select NP_060733.4:p.Ala1268Pro