Canonical Allele Identifier: CA410197276

Gene: KCNE2

Linked Data

• dbSNP Id: rs746625998
• MyVariant Identifiers: chr21:g.35743144C>G (hg19) ; chr21:g.34370845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370845C>G , CM000683.2:g.34370845C>G	GRCh38
NC_000021.8:g.35743144C>G , CM000683.1:g.35743144C>G	GRCh37
NC_000021.7:g.34665014C>G	NCBI36
NG_008804.1:g.11822C>G , LRG_291:g.11822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.367C>G MANE Select	ENSP00000290310.2:p.Pro123Ala
ENST00000290310.3:c.367C>G	ENSP00000290310.2:p.Pro123Ala
NM_172201.1:c.367C>G , LRG_291t1:c.367C>G	NP_751951.1:p.Pro123Ala
XR_937683.1:n.476G>C
XR_937684.1:n.476G>C
XR_001755012.2:n.597G>C
XR_001755013.2:n.476G>C
XR_937683.2:n.476G>C
NM_172201.2:c.367C>G MANE Select	NP_751951.1:p.Pro123Ala