Canonical Allele Identifier: CA512298928

Gene: KCNE2

Linked Data

• dbSNP Id: rs1568814414
• gnomAD v4: 21-34370951-T-C
• MyVariant Identifiers: chr21:g.35743250T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370951T>C , CM000683.2:g.34370951T>C	GRCh38
NC_000021.8:g.35743250T>C , CM000683.1:g.35743250T>C	GRCh37
NC_000021.7:g.34665120T>C	NCBI36
NG_008804.1:g.11928T>C , LRG_291:g.11928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.*101T>C MANE Select	ENSP00000290310.2:n.*101T>C
ENST00000290310.3:c.*101T>C	ENSP00000290310.2:n.*101T>C
NM_172201.1:c.*101T>C , LRG_291t1:c.*101T>C	NP_751951.1:n.*101T>C
XR_937683.1:n.370A>G
XR_937684.1:n.370A>G
XR_001755012.2:n.491A>G
XR_001755013.2:n.370A>G
XR_937683.2:n.370A>G
NM_172201.2:c.*101T>C MANE Select	NP_751951.1:n.*101T>C