Canonical Allele Identifier: CA349954933

Gene: HECW2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196242137G>T , CM000664.2:g.196242137G>T	GRCh38
NC_000002.11:g.197106861G>T , CM000664.1:g.197106861G>T	GRCh37
NC_000002.10:g.196815106G>T	NCBI36
NG_053156.1:g.356556C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260983.8:c.3597C>A	ENSP00000260983.2:p.Asn1199Lys
ENST00000498146.2:n.690C>A
ENST00000644030.1:c.3618C>A	ENSP00000495504.1:p.Asn1206Lys
ENST00000644256.1:c.3597C>A	ENSP00000494649.1:p.Asn1199Lys
ENST00000644421.1:c.1321C>A
ENST00000644978.2:c.3597C>A MANE Select	ENSP00000495418.1:p.Asn1199Lys
ENST00000645468.1:n.354C>A
ENST00000647236.1:c.*2783C>A	ENSP00000494800.1:n.*2783C>A
ENST00000260983.7:c.3597C>A	ENSP00000260983.2:p.Asn1199Lys
ENST00000409111.2:c.2529C>A	ENSP00000386775.1:p.Asn843Lys
ENST00000498146.1:n.119C>A
NM_001304840.1:c.2529C>A	NP_001291769.1:p.Asn843Lys
NM_020760.2:c.3597C>A	NP_065811.1:p.Asn1199Lys
XM_006712646.2:c.3618C>A	XP_006712709.1:p.Asn1206Lys
XM_006712648.2:c.3225C>A	XP_006712711.1:p.Asn1075Lys
NM_001304840.2:c.2529C>A	NP_001291769.1:p.Asn843Lys
NM_001348768.1:c.3597C>A	NP_001335697.1:p.Asn1199Lys
NM_020760.3:c.3597C>A	NP_065811.1:p.Asn1199Lys
XM_006712646.3:c.3618C>A	XP_006712709.1:p.Asn1206Lys
XM_006712648.4:c.3225C>A	XP_006712711.1:p.Asn1075Lys
XM_024453020.1:c.3618C>A	XP_024308788.1:p.Asn1206Lys
XM_024453021.1:c.3618C>A	XP_024308789.1:p.Asn1206Lys
NM_001348768.2:c.3597C>A MANE Select	NP_001335697.1:p.Asn1199Lys
NM_001304840.3:c.2529C>A	NP_001291769.1:p.Asn843Lys
NM_020760.4:c.3597C>A	NP_065811.1:p.Asn1199Lys