Canonical Allele Identifier: CA349964965

Gene: HECW2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196318959G>A , CM000664.2:g.196318959G>A	GRCh38
NC_000002.11:g.197183683G>A , CM000664.1:g.197183683G>A	GRCh37
NC_000002.10:g.196891928G>A	NCBI36
NG_053156.1:g.279734C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001348768.2:c.1931C>T MANE Select	NP_001335697.1:p.Ser644Phe
ENST00000644978.2:c.1931C>T MANE Select	ENSP00000495418.1:p.Ser644Phe
NM_001304840.1:c.863C>T	NP_001291769.1:p.Ser288Phe
NM_001304840.2:c.863C>T	NP_001291769.1:p.Ser288Phe
NM_001304840.3:c.863C>T	NP_001291769.1:p.Ser288Phe
NM_001348768.1:c.1931C>T	NP_001335697.1:p.Ser644Phe
NM_020760.2:c.1931C>T	NP_065811.1:p.Ser644Phe
NM_020760.3:c.1931C>T	NP_065811.1:p.Ser644Phe
NM_020760.4:c.1931C>T	NP_065811.1:p.Ser644Phe
ENST00000260983.7:c.1931C>T	ENSP00000260983.2:p.Ser644Phe
ENST00000260983.8:c.1931C>T	ENSP00000260983.2:p.Ser644Phe
ENST00000409111.2:c.863C>T	ENSP00000386775.1:p.Ser288Phe
ENST00000644030.1:c.1952C>T	ENSP00000495504.1:p.Ser651Phe
ENST00000644256.1:c.1931C>T	ENSP00000494649.1:p.Ser644Phe
ENST00000645770.1:n.2143C>T
ENST00000647236.1:c.*1117C>T	ENSP00000494800.1:n.*1117C>T
XM_006712646.2:c.1952C>T	XP_006712709.1:p.Ser651Phe
XM_006712646.3:c.1952C>T	XP_006712709.1:p.Ser651Phe
XM_006712648.2:c.1559C>T	XP_006712711.1:p.Ser520Phe
XM_006712648.4:c.1559C>T	XP_006712711.1:p.Ser520Phe
XM_024453020.1:c.1952C>T	XP_024308788.1:p.Ser651Phe
XM_024453021.1:c.1952C>T	XP_024308789.1:p.Ser651Phe