Canonical Allele Identifier: CA748856484

Gene: KCNE2

Linked Data

• dbSNP Id: rs1281667698
• gnomAD v3: 21-34370291-A-G
• gnomAD v4: 21-34370291-A-G
• MyVariant Identifiers: chr21:g.35742590A>G (hg19) ; chr21:g.34370291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370291A>G , CM000683.2:g.34370291A>G	GRCh38
NC_000021.8:g.35742590A>G , CM000683.1:g.35742590A>G	GRCh37
NC_000021.7:g.34664460A>G	NCBI36
NG_008804.1:g.11268A>G , LRG_291:g.11268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.-12-176A>G MANE Select	ENSP00000290310.2:n.-12-176A>G
ENST00000290310.3:c.-12-176A>G	ENSP00000290310.2:n.-12-176A>G
NM_172201.1:c.-12-176A>G , LRG_291t1:c.-12-176A>G	NP_751951.1:n.-12-176A>G
XR_937683.1:n.886+144T>C
XR_937684.1:n.886+144T>C
XR_001755012.2:n.1151T>C
XR_001755013.2:n.1030T>C
XR_937683.2:n.886+144T>C
NM_172201.2:c.-12-176A>G MANE Select	NP_751951.1:n.-12-176A>G