Canonical Allele Identifier: CA346073446
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs542810776
gnomAD v4: 2-25742033-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742033C>G , CM000664.2:g.25742033C>G GRCh38
NC_000002.11:g.25964902C>G , CM000664.1:g.25964902C>G GRCh37
NC_000002.10:g.25818406C>G NCBI36
NG_052995.1:g.141484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4301G>C ENSP00000337250.5:p.Arg1434Pro
ENST00000435504.9:c.4304G>C MANE Select ENSP00000391447.3:p.Arg1435Pro
ENST00000336112.8:c.4220G>C ENSP00000337250.4:p.Arg1407Pro
ENST00000404843.5:c.2753G>C ENSP00000383920.1:p.Arg918Pro
ENST00000435504.8:c.4304G>C ENSP00000391447.3:p.Arg1435Pro
NM_018263.4:c.4304G>C NP_060733.4:p.Arg1435Pro
XM_006712039.2:c.3938G>C XP_006712102.1:p.Arg1313Pro
XM_006712040.1:c.3524G>C XP_006712103.1:p.Arg1175Pro
XM_011532950.1:c.4301G>C XP_011531252.1:p.Arg1434Pro
XM_011532951.1:c.4130G>C XP_011531253.1:p.Arg1377Pro
NM_018263.5:c.4304G>C NP_060733.4:p.Arg1435Pro
XM_006712039.3:c.3938G>C XP_006712102.1:p.Arg1313Pro
XM_006712040.2:c.3524G>C XP_006712103.1:p.Arg1175Pro
XM_011532950.3:c.4301G>C XP_011531252.1:p.Arg1434Pro
XM_011532951.2:c.4130G>C XP_011531253.1:p.Arg1377Pro
XM_017004430.1:c.3524G>C XP_016859919.1:p.Arg1175Pro
XM_024452974.1:c.4484G>C XP_024308742.1:p.Arg1495Pro
NM_001369346.1:c.4130G>C NP_001356275.1:p.Arg1377Pro
NM_001369347.1:c.3524G>C NP_001356276.1:p.Arg1175Pro
NM_018263.6:c.4304G>C MANE Select NP_060733.4:p.Arg1435Pro