Canonical Allele Identifier: CA349958038
Gene: HECW2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196253920C>G , CM000664.2:g.196253920C>G GRCh38
NC_000002.11:g.197118644C>G , CM000664.1:g.197118644C>G GRCh37
NC_000002.10:g.196826889C>G NCBI36
NG_053156.1:g.344773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260983.8:c.3529G>C ENSP00000260983.2:p.Gly1177Arg
ENST00000644030.1:c.3550G>C ENSP00000495504.1:p.Gly1184Arg
ENST00000644256.1:c.3529G>C ENSP00000494649.1:p.Gly1177Arg
ENST00000644421.1:c.1253G>C
ENST00000644978.2:c.3529G>C MANE Select ENSP00000495418.1:p.Gly1177Arg
ENST00000645468.1:n.286G>C
ENST00000647236.1:c.*2715G>C ENSP00000494800.1:n.*2715G>C
ENST00000260983.7:c.3529G>C ENSP00000260983.2:p.Gly1177Arg
ENST00000409111.2:c.2461G>C ENSP00000386775.1:p.Gly821Arg
NM_001304840.1:c.2461G>C NP_001291769.1:p.Gly821Arg
NM_020760.2:c.3529G>C NP_065811.1:p.Gly1177Arg
XM_006712646.2:c.3550G>C XP_006712709.1:p.Gly1184Arg
XM_006712648.2:c.3157G>C XP_006712711.1:p.Gly1053Arg
NM_001304840.2:c.2461G>C NP_001291769.1:p.Gly821Arg
NM_001348768.1:c.3529G>C NP_001335697.1:p.Gly1177Arg
NM_020760.3:c.3529G>C NP_065811.1:p.Gly1177Arg
XM_006712646.3:c.3550G>C XP_006712709.1:p.Gly1184Arg
XM_006712648.4:c.3157G>C XP_006712711.1:p.Gly1053Arg
XM_024453020.1:c.3550G>C XP_024308788.1:p.Gly1184Arg
XM_024453021.1:c.3550G>C XP_024308789.1:p.Gly1184Arg
NM_001348768.2:c.3529G>C MANE Select NP_001335697.1:p.Gly1177Arg
NM_001304840.3:c.2461G>C NP_001291769.1:p.Gly821Arg
NM_020760.4:c.3529G>C NP_065811.1:p.Gly1177Arg