Canonical Allele Identifier: CA10013397

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 705145
• ClinVar RCV Id: RCV000875438 ; RCV002390835
• dbSNP Id: rs372013275
• ExAC: 21:35742852 T / C
• gnomAD v2: 21-35742852-T-C
• gnomAD v3: 21-34370553-T-C
• gnomAD v4: 21-34370553-T-C
• MyVariant Identifiers: chr21:g.35742852T>C (hg19) ; chr21:g.34370553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370553T>C , CM000683.2:g.34370553T>C	GRCh38
NC_000021.8:g.35742852T>C , CM000683.1:g.35742852T>C	GRCh37
NC_000021.7:g.34664722T>C	NCBI36
NG_008804.1:g.11530T>C , LRG_291:g.11530T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.75T>C MANE Select	ENSP00000290310.2:p.Asn25=
ENST00000290310.3:c.75T>C	ENSP00000290310.2:p.Asn25=
NM_172201.1:c.75T>C , LRG_291t1:c.75T>C	NP_751951.1:p.Asn25=
XR_937683.1:n.768A>G
XR_937684.1:n.768A>G
XR_001755012.2:n.889A>G
XR_001755013.2:n.768A>G
XR_937683.2:n.768A>G
NM_172201.2:c.75T>C MANE Select	NP_751951.1:p.Asn25=