Canonical Allele Identifier: CA349959845

Gene: HECW2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196292642C>G , CM000664.2:g.196292642C>G	GRCh38
NC_000002.11:g.197157366C>G , CM000664.1:g.197157366C>G	GRCh37
NC_000002.10:g.196865611C>G	NCBI36
NG_053156.1:g.306051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260983.8:c.2923G>C	ENSP00000260983.2:p.Gly975Arg
ENST00000644030.1:c.2944G>C	ENSP00000495504.1:p.Gly982Arg
ENST00000644256.1:c.2923G>C	ENSP00000494649.1:p.Gly975Arg
ENST00000644405.1:n.560G>C
ENST00000644421.1:c.731G>C
ENST00000644978.2:c.2923G>C MANE Select	ENSP00000495418.1:p.Gly975Arg
ENST00000647236.1:c.*2109G>C	ENSP00000494800.1:n.*2109G>C
ENST00000260983.7:c.2923G>C	ENSP00000260983.2:p.Gly975Arg
ENST00000409111.2:c.1855G>C	ENSP00000386775.1:p.Gly619Arg
NM_001304840.1:c.1855G>C	NP_001291769.1:p.Gly619Arg
NM_020760.2:c.2923G>C	NP_065811.1:p.Gly975Arg
XM_006712646.2:c.2944G>C	XP_006712709.1:p.Gly982Arg
XM_006712648.2:c.2551G>C	XP_006712711.1:p.Gly851Arg
NM_001304840.2:c.1855G>C	NP_001291769.1:p.Gly619Arg
NM_001348768.1:c.2923G>C	NP_001335697.1:p.Gly975Arg
NM_020760.3:c.2923G>C	NP_065811.1:p.Gly975Arg
XM_006712646.3:c.2944G>C	XP_006712709.1:p.Gly982Arg
XM_006712648.4:c.2551G>C	XP_006712711.1:p.Gly851Arg
XM_024453020.1:c.2944G>C	XP_024308788.1:p.Gly982Arg
XM_024453021.1:c.2944G>C	XP_024308789.1:p.Gly982Arg
NM_001348768.2:c.2923G>C MANE Select	NP_001335697.1:p.Gly975Arg
NM_001304840.3:c.1855G>C	NP_001291769.1:p.Gly619Arg
NM_020760.4:c.2923G>C	NP_065811.1:p.Gly975Arg