Canonical Allele Identifier: CA349952131

Gene: HECW2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196274056A>G , CM000664.2:g.196274056A>G	GRCh38
NC_000002.11:g.197138780A>G , CM000664.1:g.197138780A>G	GRCh37
NC_000002.10:g.196847025A>G	NCBI36
NG_053156.1:g.324637T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260983.8:c.3203T>C	ENSP00000260983.2:p.Val1068Ala
ENST00000644030.1:c.3224T>C	ENSP00000495504.1:p.Val1075Ala
ENST00000644256.1:c.3203T>C	ENSP00000494649.1:p.Val1068Ala
ENST00000644421.1:c.1011T>C
ENST00000644978.2:c.3203T>C MANE Select	ENSP00000495418.1:p.Val1068Ala
ENST00000647236.1:c.*2389T>C	ENSP00000494800.1:n.*2389T>C
ENST00000647402.1:n.233T>C
ENST00000260983.7:c.3203T>C	ENSP00000260983.2:p.Val1068Ala
ENST00000409111.2:c.2135T>C	ENSP00000386775.1:p.Val712Ala
ENST00000462290.1:n.220T>C
NM_001304840.1:c.2135T>C	NP_001291769.1:p.Val712Ala
NM_020760.2:c.3203T>C	NP_065811.1:p.Val1068Ala
XM_006712646.2:c.3224T>C	XP_006712709.1:p.Val1075Ala
XM_006712648.2:c.2831T>C	XP_006712711.1:p.Val944Ala
NM_001304840.2:c.2135T>C	NP_001291769.1:p.Val712Ala
NM_001348768.1:c.3203T>C	NP_001335697.1:p.Val1068Ala
NM_020760.3:c.3203T>C	NP_065811.1:p.Val1068Ala
XM_006712646.3:c.3224T>C	XP_006712709.1:p.Val1075Ala
XM_006712648.4:c.2831T>C	XP_006712711.1:p.Val944Ala
XM_024453020.1:c.3224T>C	XP_024308788.1:p.Val1075Ala
XM_024453021.1:c.3224T>C	XP_024308789.1:p.Val1075Ala
NM_001348768.2:c.3203T>C MANE Select	NP_001335697.1:p.Val1068Ala
NM_001304840.3:c.2135T>C	NP_001291769.1:p.Val712Ala
NM_020760.4:c.3203T>C	NP_065811.1:p.Val1068Ala