Canonical Allele Identifier: CA346073512
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742066G>T , CM000664.2:g.25742066G>T GRCh38
NC_000002.11:g.25964935G>T , CM000664.1:g.25964935G>T GRCh37
NC_000002.10:g.25818439G>T NCBI36
NG_052995.1:g.141451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4268C>A ENSP00000337250.5:p.Pro1423His
ENST00000435504.9:c.4271C>A MANE Select ENSP00000391447.3:p.Pro1424His
ENST00000336112.8:c.4187C>A ENSP00000337250.4:p.Pro1396His
ENST00000404843.5:c.2720C>A ENSP00000383920.1:p.Pro907His
ENST00000435504.8:c.4271C>A ENSP00000391447.3:p.Pro1424His
NM_018263.4:c.4271C>A NP_060733.4:p.Pro1424His
XM_006712039.2:c.3905C>A XP_006712102.1:p.Pro1302His
XM_006712040.1:c.3491C>A XP_006712103.1:p.Pro1164His
XM_011532950.1:c.4268C>A XP_011531252.1:p.Pro1423His
XM_011532951.1:c.4097C>A XP_011531253.1:p.Pro1366His
NM_018263.5:c.4271C>A NP_060733.4:p.Pro1424His
XM_006712039.3:c.3905C>A XP_006712102.1:p.Pro1302His
XM_006712040.2:c.3491C>A XP_006712103.1:p.Pro1164His
XM_011532950.3:c.4268C>A XP_011531252.1:p.Pro1423His
XM_011532951.2:c.4097C>A XP_011531253.1:p.Pro1366His
XM_017004430.1:c.3491C>A XP_016859919.1:p.Pro1164His
XM_024452974.1:c.4451C>A XP_024308742.1:p.Pro1484His
NM_001369346.1:c.4097C>A NP_001356275.1:p.Pro1366His
NM_001369347.1:c.3491C>A NP_001356276.1:p.Pro1164His
NM_018263.6:c.4271C>A MANE Select NP_060733.4:p.Pro1424His