Canonical Allele Identifier: CA410197271

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35743142C>G (hg19) ; chr21:g.34370843C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370843C>G , CM000683.2:g.34370843C>G	GRCh38
NC_000021.8:g.35743142C>G , CM000683.1:g.35743142C>G	GRCh37
NC_000021.7:g.34665012C>G	NCBI36
NG_008804.1:g.11820C>G , LRG_291:g.11820C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.365C>G MANE Select	ENSP00000290310.2:p.Ser122Cys
ENST00000290310.3:c.365C>G	ENSP00000290310.2:p.Ser122Cys
NM_172201.1:c.365C>G , LRG_291t1:c.365C>G	NP_751951.1:p.Ser122Cys
XR_937683.1:n.478G>C
XR_937684.1:n.478G>C
XR_001755012.2:n.599G>C
XR_001755013.2:n.478G>C
XR_937683.2:n.478G>C
NM_172201.2:c.365C>G MANE Select	NP_751951.1:p.Ser122Cys