Canonical Allele Identifier: CA349965177
Community Standard Title: NM_001348768.2(HECW2):c.1870A>G (p.Ser624Gly)
Gene: HECW2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196319020T>C , CM000664.2:g.196319020T>C GRCh38
NC_000002.11:g.197183744T>C , CM000664.1:g.197183744T>C GRCh37
NC_000002.10:g.196891989T>C NCBI36
NG_053156.1:g.279673A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001348768.2:c.1870A>G MANE Select NP_001335697.1:p.Ser624Gly
ENST00000644978.2:c.1870A>G MANE Select ENSP00000495418.1:p.Ser624Gly
NM_001304840.1:c.802A>G NP_001291769.1:p.Ser268Gly
NM_001304840.2:c.802A>G NP_001291769.1:p.Ser268Gly
NM_001304840.3:c.802A>G NP_001291769.1:p.Ser268Gly
NM_001348768.1:c.1870A>G NP_001335697.1:p.Ser624Gly
NM_020760.2:c.1870A>G NP_065811.1:p.Ser624Gly
NM_020760.3:c.1870A>G NP_065811.1:p.Ser624Gly
NM_020760.4:c.1870A>G NP_065811.1:p.Ser624Gly
ENST00000260983.7:c.1870A>G ENSP00000260983.2:p.Ser624Gly
ENST00000260983.8:c.1870A>G ENSP00000260983.2:p.Ser624Gly
ENST00000409111.2:c.802A>G ENSP00000386775.1:p.Ser268Gly
ENST00000644030.1:c.1891A>G ENSP00000495504.1:p.Ser631Gly
ENST00000644256.1:c.1870A>G ENSP00000494649.1:p.Ser624Gly
ENST00000645770.1:n.2082A>G
ENST00000647236.1:c.*1056A>G ENSP00000494800.1:n.*1056A>G
XM_006712646.2:c.1891A>G XP_006712709.1:p.Ser631Gly
XM_006712646.3:c.1891A>G XP_006712709.1:p.Ser631Gly
XM_006712648.2:c.1498A>G XP_006712711.1:p.Ser500Gly
XM_006712648.4:c.1498A>G XP_006712711.1:p.Ser500Gly
XM_024453020.1:c.1891A>G XP_024308788.1:p.Ser631Gly
XM_024453021.1:c.1891A>G XP_024308789.1:p.Ser631Gly