Canonical Allele Identifier: CA410196348

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370596-A-G
• MyVariant Identifiers: chr21:g.35742895A>G (hg19) ; chr21:g.34370596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370596A>G , CM000683.2:g.34370596A>G	GRCh38
NC_000021.8:g.35742895A>G , CM000683.1:g.35742895A>G	GRCh37
NC_000021.7:g.34664765A>G	NCBI36
NG_008804.1:g.11573A>G , LRG_291:g.11573A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.118A>G MANE Select	ENSP00000290310.2:p.Lys40Glu
ENST00000290310.3:c.118A>G	ENSP00000290310.2:p.Lys40Glu
NM_172201.1:c.118A>G , LRG_291t1:c.118A>G	NP_751951.1:p.Lys40Glu
XR_937683.1:n.725T>C
XR_937684.1:n.725T>C
XR_001755012.2:n.846T>C
XR_001755013.2:n.725T>C
XR_937683.2:n.725T>C
NM_172201.2:c.118A>G MANE Select	NP_751951.1:p.Lys40Glu