Canonical Allele Identifier: CA410196747

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370708-G-T
• MyVariant Identifiers: chr21:g.35743007G>T (hg19) ; chr21:g.34370708G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370708G>T , CM000683.2:g.34370708G>T	GRCh38
NC_000021.8:g.35743007G>T , CM000683.1:g.35743007G>T	GRCh37
NC_000021.7:g.34664877G>T	NCBI36
NG_008804.1:g.11685G>T , LRG_291:g.11685G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.230G>T MANE Select	ENSP00000290310.2:p.Arg77Leu
ENST00000290310.3:c.230G>T	ENSP00000290310.2:p.Arg77Leu
NM_172201.1:c.230G>T , LRG_291t1:c.230G>T	NP_751951.1:p.Arg77Leu
XR_937683.1:n.613C>A
XR_937684.1:n.613C>A
XR_001755012.2:n.734C>A
XR_001755013.2:n.613C>A
XR_937683.2:n.613C>A
NM_172201.2:c.230G>T MANE Select	NP_751951.1:p.Arg77Leu