Canonical Allele Identifier: CA320365701

Gene: KCNE2

Linked Data

• dbSNP Id: rs373521807
• gnomAD v2: 21-35742686-C-A
• gnomAD v3: 21-34370387-C-A
• gnomAD v4: 21-34370387-C-A
• MyVariant Identifiers: chr21:g.35742686C>A (hg19) ; chr21:g.34370387C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370387C>A , CM000683.2:g.34370387C>A	GRCh38
NC_000021.8:g.35742686C>A , CM000683.1:g.35742686C>A	GRCh37
NC_000021.7:g.34664556C>A	NCBI36
NG_008804.1:g.11364C>A , LRG_291:g.11364C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.-12-80C>A MANE Select	ENSP00000290310.2:n.-12-80C>A
ENST00000290310.3:c.-12-80C>A	ENSP00000290310.2:n.-12-80C>A
NM_172201.1:c.-12-80C>A , LRG_291t1:c.-12-80C>A	NP_751951.1:n.-12-80C>A
XR_937683.1:n.886+48G>T
XR_937684.1:n.886+48G>T
XR_001755012.2:n.1055G>T
XR_001755013.2:n.934G>T
XR_937683.2:n.886+48G>T
NM_172201.2:c.-12-80C>A MANE Select	NP_751951.1:n.-12-80C>A