Canonical Allele Identifier: CA2037502

Gene: HECW2

Linked Data

• dbSNP Id: rs147561204
• ExAC: 2:197081725 A / G
• gnomAD v2: 2-197081725-A-G
• gnomAD v3: 2-196217001-A-G
• gnomAD v4: 2-196217001-A-G
• MyVariant Identifiers: chr2:g.197081725A>G (hg19) ; chr2:g.196217001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196217001A>G , CM000664.2:g.196217001A>G	GRCh38
NC_000002.11:g.197081725A>G , CM000664.1:g.197081725A>G	GRCh37
NC_000002.10:g.196789970A>G	NCBI36
NG_053156.1:g.381692T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260983.8:c.4494+7T>C	ENSP00000260983.2:n.4494+7T>C
ENST00000642318.1:n.1252+7T>C
ENST00000644030.1:c.4515+7T>C	ENSP00000495504.1:n.4515+7T>C
ENST00000644256.1:c.4494+7T>C	ENSP00000494649.1:n.4494+7T>C
ENST00000644421.1:c.2218+7T>C
ENST00000644978.2:c.4494+7T>C MANE Select	ENSP00000495418.1:n.4494+7T>C
ENST00000647236.1:c.*3680+7T>C	ENSP00000494800.1:n.*3680+7T>C
ENST00000260983.7:c.4494+7T>C	ENSP00000260983.2:n.4494+7T>C
ENST00000409111.2:c.3426+7T>C	ENSP00000386775.1:n.3426+7T>C
NM_001304840.1:c.3426+7T>C	NP_001291769.1:n.3426+7T>C
NM_020760.2:c.4494+7T>C	NP_065811.1:n.4494+7T>C
XM_006712646.2:c.4515+7T>C	XP_006712709.1:n.4515+7T>C
XM_006712648.2:c.4122+7T>C	XP_006712711.1:n.4122+7T>C
NM_001304840.2:c.3426+7T>C	NP_001291769.1:n.3426+7T>C
NM_001348768.1:c.4494+7T>C	NP_001335697.1:n.4494+7T>C
NM_020760.3:c.4494+7T>C	NP_065811.1:n.4494+7T>C
XM_006712646.3:c.4515+7T>C	XP_006712709.1:n.4515+7T>C
XM_006712648.4:c.4122+7T>C	XP_006712711.1:n.4122+7T>C
XM_024453020.1:c.4515+7T>C	XP_024308788.1:n.4515+7T>C
XM_024453021.1:c.4515+7T>C	XP_024308789.1:n.4515+7T>C
NM_001348768.2:c.4494+7T>C MANE Select	NP_001335697.1:n.4494+7T>C
NM_001304840.3:c.3426+7T>C	NP_001291769.1:n.3426+7T>C
NM_020760.4:c.4494+7T>C	NP_065811.1:n.4494+7T>C