Canonical Allele Identifier: CA349959840
Gene: HECW2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196292642C>T , CM000664.2:g.196292642C>T GRCh38
NC_000002.11:g.197157366C>T , CM000664.1:g.197157366C>T GRCh37
NC_000002.10:g.196865611C>T NCBI36
NG_053156.1:g.306051G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260983.8:c.2923G>A ENSP00000260983.2:p.Gly975Arg
ENST00000644030.1:c.2944G>A ENSP00000495504.1:p.Gly982Arg
ENST00000644256.1:c.2923G>A ENSP00000494649.1:p.Gly975Arg
ENST00000644405.1:n.560G>A
ENST00000644421.1:c.731G>A
ENST00000644978.2:c.2923G>A MANE Select ENSP00000495418.1:p.Gly975Arg
ENST00000647236.1:c.*2109G>A ENSP00000494800.1:n.*2109G>A
ENST00000260983.7:c.2923G>A ENSP00000260983.2:p.Gly975Arg
ENST00000409111.2:c.1855G>A ENSP00000386775.1:p.Gly619Arg
NM_001304840.1:c.1855G>A NP_001291769.1:p.Gly619Arg
NM_020760.2:c.2923G>A NP_065811.1:p.Gly975Arg
XM_006712646.2:c.2944G>A XP_006712709.1:p.Gly982Arg
XM_006712648.2:c.2551G>A XP_006712711.1:p.Gly851Arg
NM_001304840.2:c.1855G>A NP_001291769.1:p.Gly619Arg
NM_001348768.1:c.2923G>A NP_001335697.1:p.Gly975Arg
NM_020760.3:c.2923G>A NP_065811.1:p.Gly975Arg
XM_006712646.3:c.2944G>A XP_006712709.1:p.Gly982Arg
XM_006712648.4:c.2551G>A XP_006712711.1:p.Gly851Arg
XM_024453020.1:c.2944G>A XP_024308788.1:p.Gly982Arg
XM_024453021.1:c.2944G>A XP_024308789.1:p.Gly982Arg
NM_001348768.2:c.2923G>A MANE Select NP_001335697.1:p.Gly975Arg
NM_001304840.3:c.1855G>A NP_001291769.1:p.Gly619Arg
NM_020760.4:c.2923G>A NP_065811.1:p.Gly975Arg