Canonical Allele Identifier: CA346075259
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742423G>C , CM000664.2:g.25742423G>C GRCh38
NC_000002.11:g.25965292G>C , CM000664.1:g.25965292G>C GRCh37
NC_000002.10:g.25818796G>C NCBI36
NG_052995.1:g.141094C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3911C>G ENSP00000337250.5:p.Pro1304Arg
ENST00000435504.9:c.3914C>G MANE Select ENSP00000391447.3:p.Pro1305Arg
ENST00000336112.8:c.3830C>G ENSP00000337250.4:p.Pro1277Arg
ENST00000404843.5:c.2363C>G ENSP00000383920.1:p.Pro788Arg
ENST00000435504.8:c.3914C>G ENSP00000391447.3:p.Pro1305Arg
NM_018263.4:c.3914C>G NP_060733.4:p.Pro1305Arg
XM_006712039.2:c.3548C>G XP_006712102.1:p.Pro1183Arg
XM_006712040.1:c.3134C>G XP_006712103.1:p.Pro1045Arg
XM_011532950.1:c.3911C>G XP_011531252.1:p.Pro1304Arg
XM_011532951.1:c.3740C>G XP_011531253.1:p.Pro1247Arg
NM_018263.5:c.3914C>G NP_060733.4:p.Pro1305Arg
XM_006712039.3:c.3548C>G XP_006712102.1:p.Pro1183Arg
XM_006712040.2:c.3134C>G XP_006712103.1:p.Pro1045Arg
XM_011532950.3:c.3911C>G XP_011531252.1:p.Pro1304Arg
XM_011532951.2:c.3740C>G XP_011531253.1:p.Pro1247Arg
XM_017004430.1:c.3134C>G XP_016859919.1:p.Pro1045Arg
XM_024452974.1:c.4094C>G XP_024308742.1:p.Pro1365Arg
NM_001369346.1:c.3740C>G NP_001356275.1:p.Pro1247Arg
NM_001369347.1:c.3134C>G NP_001356276.1:p.Pro1045Arg
NM_018263.6:c.3914C>G MANE Select NP_060733.4:p.Pro1305Arg