Canonical Allele Identifier: CA410196160

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370524-C-G
• MyVariant Identifiers: chr21:g.35742823C>G (hg19) ; chr21:g.34370524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370524C>G , CM000683.2:g.34370524C>G	GRCh38
NC_000021.8:g.35742823C>G , CM000683.1:g.35742823C>G	GRCh37
NC_000021.7:g.34664693C>G	NCBI36
NG_008804.1:g.11501C>G , LRG_291:g.11501C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.46C>G MANE Select	ENSP00000290310.2:p.Arg16Gly
ENST00000290310.3:c.46C>G	ENSP00000290310.2:p.Arg16Gly
NM_172201.1:c.46C>G , LRG_291t1:c.46C>G	NP_751951.1:p.Arg16Gly
XR_937683.1:n.797G>C
XR_937684.1:n.797G>C
XR_001755012.2:n.918G>C
XR_001755013.2:n.797G>C
XR_937683.2:n.797G>C
NM_172201.2:c.46C>G MANE Select	NP_751951.1:p.Arg16Gly