Canonical Allele Identifier: CA1022012993
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1979518557
gnomAD v3: 21-34370333-T-A
gnomAD v4: 21-34370333-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370333T>A , CM000683.2:g.34370333T>A GRCh38
NC_000021.8:g.35742632T>A , CM000683.1:g.35742632T>A GRCh37
NC_000021.7:g.34664502T>A NCBI36
NG_008804.1:g.11310T>A , LRG_291:g.11310T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.-12-134T>A MANE Select ENSP00000290310.2:n.-12-134T>A
ENST00000290310.3:c.-12-134T>A ENSP00000290310.2:n.-12-134T>A
NM_172201.1:c.-12-134T>A , LRG_291t1:c.-12-134T>A NP_751951.1:n.-12-134T>A
XR_937683.1:n.886+102A>T
XR_937684.1:n.886+102A>T
XR_001755012.2:n.1109A>T
XR_001755013.2:n.988A>T
XR_937683.2:n.886+102A>T
NM_172201.2:c.-12-134T>A MANE Select NP_751951.1:n.-12-134T>A
Search 100 bp 5'
Search 100 bp 3'