Canonical Allele Identifier: CA410196206

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370545-A-G
• MyVariant Identifiers: chr21:g.35742844A>G (hg19) ; chr21:g.34370545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370545A>G , CM000683.2:g.34370545A>G	GRCh38
NC_000021.8:g.35742844A>G , CM000683.1:g.35742844A>G	GRCh37
NC_000021.7:g.34664714A>G	NCBI36
NG_008804.1:g.11522A>G , LRG_291:g.11522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.67A>G MANE Select	ENSP00000290310.2:p.Met23Val
ENST00000290310.3:c.67A>G	ENSP00000290310.2:p.Met23Val
NM_172201.1:c.67A>G , LRG_291t1:c.67A>G	NP_751951.1:p.Met23Val
XR_937683.1:n.776T>C
XR_937684.1:n.776T>C
XR_001755012.2:n.897T>C
XR_001755013.2:n.776T>C
XR_937683.2:n.776T>C
NM_172201.2:c.67A>G MANE Select	NP_751951.1:p.Met23Val