Canonical Allele Identifier: CA349954931
Gene: HECW2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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