Canonical Allele Identifier: CA410197266

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370842-T-G
• MyVariant Identifiers: chr21:g.35743141T>G (hg19) ; chr21:g.34370842T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370842T>G , CM000683.2:g.34370842T>G	GRCh38
NC_000021.8:g.35743141T>G , CM000683.1:g.35743141T>G	GRCh37
NC_000021.7:g.34665011T>G	NCBI36
NG_008804.1:g.11819T>G , LRG_291:g.11819T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.364T>G MANE Select	ENSP00000290310.2:p.Ser122Ala
ENST00000290310.3:c.364T>G	ENSP00000290310.2:p.Ser122Ala
NM_172201.1:c.364T>G , LRG_291t1:c.364T>G	NP_751951.1:p.Ser122Ala
XR_937683.1:n.479A>C
XR_937684.1:n.479A>C
XR_001755012.2:n.600A>C
XR_001755013.2:n.479A>C
XR_937683.2:n.479A>C
NM_172201.2:c.364T>G MANE Select	NP_751951.1:p.Ser122Ala