Canonical Allele Identifier: CA512298176

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35743143C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370844C>G , CM000683.2:g.34370844C>G	GRCh38
NC_000021.8:g.35743143C>G , CM000683.1:g.35743143C>G	GRCh37
NC_000021.7:g.34665013C>G	NCBI36
NG_008804.1:g.11821C>G , LRG_291:g.11821C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.366C>G MANE Select	ENSP00000290310.2:p.Ser122=
ENST00000290310.3:c.366C>G	ENSP00000290310.2:p.Ser122=
NM_172201.1:c.366C>G , LRG_291t1:c.366C>G	NP_751951.1:p.Ser122=
XR_937683.1:n.477G>C
XR_937684.1:n.477G>C
XR_001755012.2:n.598G>C
XR_001755013.2:n.477G>C
XR_937683.2:n.477G>C
NM_172201.2:c.366C>G MANE Select	NP_751951.1:p.Ser122=