Canonical Allele Identifier: CA512344967

Gene: KCNE2

Linked Data

• dbSNP Id: rs1568813802
• gnomAD v4: 21-34370502-A-G
• MyVariant Identifiers: chr21:g.35742801A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370502A>G , CM000683.2:g.34370502A>G	GRCh38
NC_000021.8:g.35742801A>G , CM000683.1:g.35742801A>G	GRCh37
NC_000021.7:g.34664671A>G	NCBI36
NG_008804.1:g.11479A>G , LRG_291:g.11479A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.24A>G MANE Select	ENSP00000290310.2:p.Thr8=
ENST00000290310.3:c.24A>G	ENSP00000290310.2:p.Thr8=
NM_172201.1:c.24A>G , LRG_291t1:c.24A>G	NP_751951.1:p.Thr8=
XR_937683.1:n.819T>C
XR_937684.1:n.819T>C
XR_001755012.2:n.940T>C
XR_001755013.2:n.819T>C
XR_937683.2:n.819T>C
NM_172201.2:c.24A>G MANE Select	NP_751951.1:p.Thr8=