Canonical Allele Identifier: CA512298677

Gene: KCNE2

Linked Data

• dbSNP Id: rs1979565052
• gnomAD v4: 21-34370908-C-T
• MyVariant Identifiers: chr21:g.35743207C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370908C>T , CM000683.2:g.34370908C>T	GRCh38
NC_000021.8:g.35743207C>T , CM000683.1:g.35743207C>T	GRCh37
NC_000021.7:g.34665077C>T	NCBI36
NG_008804.1:g.11885C>T , LRG_291:g.11885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.*58C>T MANE Select	ENSP00000290310.2:n.*58C>T
ENST00000290310.3:c.*58C>T	ENSP00000290310.2:n.*58C>T
NM_172201.1:c.*58C>T , LRG_291t1:c.*58C>T	NP_751951.1:n.*58C>T
XR_937683.1:n.413G>A
XR_937684.1:n.413G>A
XR_001755012.2:n.534G>A
XR_001755013.2:n.413G>A
XR_937683.2:n.413G>A
NM_172201.2:c.*58C>T MANE Select	NP_751951.1:n.*58C>T