Canonical Allele Identifier: CA512345463

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370715-C-T
• MyVariant Identifiers: chr21:g.35743014C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370715C>T , CM000683.2:g.34370715C>T	GRCh38
NC_000021.8:g.35743014C>T , CM000683.1:g.35743014C>T	GRCh37
NC_000021.7:g.34664884C>T	NCBI36
NG_008804.1:g.11692C>T , LRG_291:g.11692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.237C>T MANE Select	ENSP00000290310.2:p.His79=
ENST00000290310.3:c.237C>T	ENSP00000290310.2:p.His79=
NM_172201.1:c.237C>T , LRG_291t1:c.237C>T	NP_751951.1:p.His79=
XR_937683.1:n.606G>A
XR_937684.1:n.606G>A
XR_001755012.2:n.727G>A
XR_001755013.2:n.606G>A
XR_937683.2:n.606G>A
NM_172201.2:c.237C>T MANE Select	NP_751951.1:p.His79=