Canonical Allele Identifier: CA349961680

Gene: HECW2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196307232A>G , CM000664.2:g.196307232A>G	GRCh38
NC_000002.11:g.197171956A>G , CM000664.1:g.197171956A>G	GRCh37
NC_000002.10:g.196880201A>G	NCBI36
NG_053156.1:g.291461T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001348768.2:c.2587T>C MANE Select	NP_001335697.1:p.Tyr863His
ENST00000644978.2:c.2587T>C MANE Select	ENSP00000495418.1:p.Tyr863His
NM_001304840.1:c.1519T>C	NP_001291769.1:p.Tyr507His
NM_001304840.2:c.1519T>C	NP_001291769.1:p.Tyr507His
NM_001304840.3:c.1519T>C	NP_001291769.1:p.Tyr507His
NM_001348768.1:c.2587T>C	NP_001335697.1:p.Tyr863His
NM_020760.2:c.2587T>C	NP_065811.1:p.Tyr863His
NM_020760.3:c.2587T>C	NP_065811.1:p.Tyr863His
NM_020760.4:c.2587T>C	NP_065811.1:p.Tyr863His
ENST00000260983.7:c.2587T>C	ENSP00000260983.2:p.Tyr863His
ENST00000260983.8:c.2587T>C	ENSP00000260983.2:p.Tyr863His
ENST00000409111.2:c.1519T>C	ENSP00000386775.1:p.Tyr507His
ENST00000644030.1:c.2608T>C	ENSP00000495504.1:p.Tyr870His
ENST00000644256.1:c.2587T>C	ENSP00000494649.1:p.Tyr863His
ENST00000644405.1:n.224T>C
ENST00000644421.1:c.395T>C
ENST00000647236.1:c.*1773T>C	ENSP00000494800.1:n.*1773T>C
XM_006712646.2:c.2608T>C	XP_006712709.1:p.Tyr870His
XM_006712646.3:c.2608T>C	XP_006712709.1:p.Tyr870His
XM_006712648.2:c.2215T>C	XP_006712711.1:p.Tyr739His
XM_006712648.4:c.2215T>C	XP_006712711.1:p.Tyr739His
XM_024453020.1:c.2608T>C	XP_024308788.1:p.Tyr870His
XM_024453021.1:c.2608T>C	XP_024308789.1:p.Tyr870His