Canonical Allele Identifier: CA320365705

Gene: KCNE2

Linked Data

• dbSNP Id: rs41314705
• gnomAD v2: 21-35742717-A-G
• gnomAD v3: 21-34370418-A-G
• gnomAD v4: 21-34370418-A-G
• MyVariant Identifiers: chr21:g.35742717A>G (hg19) ; chr21:g.34370418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370418A>G , CM000683.2:g.34370418A>G	GRCh38
NC_000021.8:g.35742717A>G , CM000683.1:g.35742717A>G	GRCh37
NC_000021.7:g.34664587A>G	NCBI36
NG_008804.1:g.11395A>G , LRG_291:g.11395A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.-12-49A>G MANE Select	ENSP00000290310.2:n.-12-49A>G
ENST00000290310.3:c.-12-49A>G	ENSP00000290310.2:n.-12-49A>G
NM_172201.1:c.-12-49A>G , LRG_291t1:c.-12-49A>G	NP_751951.1:n.-12-49A>G
XR_937683.1:n.886+17T>C
XR_937684.1:n.886+17T>C
XR_001755012.2:n.1024T>C
XR_001755013.2:n.903T>C
XR_937683.2:n.886+17T>C
NM_172201.2:c.-12-49A>G MANE Select	NP_751951.1:n.-12-49A>G