Canonical Allele Identifier: CA346073529
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742074G>C , CM000664.2:g.25742074G>C GRCh38
NC_000002.11:g.25964943G>C , CM000664.1:g.25964943G>C GRCh37
NC_000002.10:g.25818447G>C NCBI36
NG_052995.1:g.141443C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4260C>G ENSP00000337250.5:p.Cys1420Trp
ENST00000435504.9:c.4263C>G MANE Select ENSP00000391447.3:p.Cys1421Trp
ENST00000336112.8:c.4179C>G ENSP00000337250.4:p.Cys1393Trp
ENST00000404843.5:c.2712C>G ENSP00000383920.1:p.Cys904Trp
ENST00000435504.8:c.4263C>G ENSP00000391447.3:p.Cys1421Trp
NM_018263.4:c.4263C>G NP_060733.4:p.Cys1421Trp
XM_006712039.2:c.3897C>G XP_006712102.1:p.Cys1299Trp
XM_006712040.1:c.3483C>G XP_006712103.1:p.Cys1161Trp
XM_011532950.1:c.4260C>G XP_011531252.1:p.Cys1420Trp
XM_011532951.1:c.4089C>G XP_011531253.1:p.Cys1363Trp
NM_018263.5:c.4263C>G NP_060733.4:p.Cys1421Trp
XM_006712039.3:c.3897C>G XP_006712102.1:p.Cys1299Trp
XM_006712040.2:c.3483C>G XP_006712103.1:p.Cys1161Trp
XM_011532950.3:c.4260C>G XP_011531252.1:p.Cys1420Trp
XM_011532951.2:c.4089C>G XP_011531253.1:p.Cys1363Trp
XM_017004430.1:c.3483C>G XP_016859919.1:p.Cys1161Trp
XM_024452974.1:c.4443C>G XP_024308742.1:p.Cys1481Trp
NM_001369346.1:c.4089C>G NP_001356275.1:p.Cys1363Trp
NM_001369347.1:c.3483C>G NP_001356276.1:p.Cys1161Trp
NM_018263.6:c.4263C>G MANE Select NP_060733.4:p.Cys1421Trp