Canonical Allele Identifier: CA2038148

Gene: HECW2

Linked Data

• ClinVar Variation Id: 254099
• ClinVar RCV Id: RCV000240556
• dbSNP Id: rs757981529
• ExAC: 2:197183341 CCTT / C
• gnomAD v2: 2-197183341-CCTT-C
• gnomAD v3: 2-196318617-CCTT-C
• gnomAD v4: 2-196318617-CCTT-C
• MyVariant Identifiers: chr2:g.197183342_197183344del (hg19) ; chr2:g.196318618_196318620del (hg38)
• PubMed: PMID:28299356

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196318624_196318626del , CM000664.2:g.196318624_196318626del	GRCh38
NC_000002.11:g.197183348_197183350del , CM000664.1:g.197183348_197183350del	GRCh37
NC_000002.10:g.196891593_196891595del	NCBI36
NG_053156.1:g.280073_280075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260983.8:c.2270_2272del	ENSP00000260983.2:p.Glu757del
ENST00000644030.1:c.2291_2293del	ENSP00000495504.1:p.Glu764del
ENST00000644256.1:c.2270_2272del	ENSP00000494649.1:p.Glu757del
ENST00000644421.1:c.78_80del
ENST00000644978.2:c.2270_2272del MANE Select	ENSP00000495418.1:p.Glu757del
ENST00000645770.1:n.2482_2484del
ENST00000647236.1:c.*1456_*1458del	ENSP00000494800.1:n.*1456_*1458del
ENST00000260983.7:c.2270_2272del	ENSP00000260983.2:p.Glu757del
ENST00000409111.2:c.1202_1204del	ENSP00000386775.1:p.Glu401del
NM_001304840.1:c.1202_1204del	NP_001291769.1:p.Glu401del
NM_020760.2:c.2270_2272del	NP_065811.1:p.Glu757del
XM_006712646.2:c.2291_2293del	XP_006712709.1:p.Glu764del
XM_006712648.2:c.1898_1900del	XP_006712711.1:p.Glu633del
NM_001304840.2:c.1202_1204del	NP_001291769.1:p.Glu401del
NM_001348768.1:c.2270_2272del	NP_001335697.1:p.Glu757del
NM_020760.3:c.2270_2272del	NP_065811.1:p.Glu757del
XM_006712646.3:c.2291_2293del	XP_006712709.1:p.Glu764del
XM_006712648.4:c.1898_1900del	XP_006712711.1:p.Glu633del
XM_024453020.1:c.2291_2293del	XP_024308788.1:p.Glu764del
XM_024453021.1:c.2291_2293del	XP_024308789.1:p.Glu764del
NM_001348768.2:c.2270_2272del MANE Select	NP_001335697.1:p.Glu757del
NM_001304840.3:c.1202_1204del	NP_001291769.1:p.Glu401del
NM_020760.4:c.2270_2272del	NP_065811.1:p.Glu757del