Canonical Allele Identifier: CA320365693

Gene: KCNE2

Linked Data

• dbSNP Id: rs560353823
• gnomAD v3: 21-34370316-G-C
• gnomAD v4: 21-34370316-G-C
• MyVariant Identifiers: chr21:g.35742615G>C (hg19) ; chr21:g.34370316G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370316G>C , CM000683.2:g.34370316G>C	GRCh38
NC_000021.8:g.35742615G>C , CM000683.1:g.35742615G>C	GRCh37
NC_000021.7:g.34664485G>C	NCBI36
NG_008804.1:g.11293G>C , LRG_291:g.11293G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.-12-151G>C MANE Select	ENSP00000290310.2:n.-12-151G>C
ENST00000290310.3:c.-12-151G>C	ENSP00000290310.2:n.-12-151G>C
NM_172201.1:c.-12-151G>C , LRG_291t1:c.-12-151G>C	NP_751951.1:n.-12-151G>C
XR_937683.1:n.886+119C>G
XR_937684.1:n.886+119C>G
XR_001755012.2:n.1126C>G
XR_001755013.2:n.1005C>G
XR_937683.2:n.886+119C>G
NM_172201.2:c.-12-151G>C MANE Select	NP_751951.1:n.-12-151G>C