Canonical Allele Identifier: CA410196361

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35742901G>A (hg19) ; chr21:g.34370602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370602G>A , CM000683.2:g.34370602G>A	GRCh38
NC_000021.8:g.35742901G>A , CM000683.1:g.35742901G>A	GRCh37
NC_000021.7:g.34664771G>A	NCBI36
NG_008804.1:g.11579G>A , LRG_291:g.11579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.124G>A MANE Select	ENSP00000290310.2:p.Asp42Asn
ENST00000290310.3:c.124G>A	ENSP00000290310.2:p.Asp42Asn
NM_172201.1:c.124G>A , LRG_291t1:c.124G>A	NP_751951.1:p.Asp42Asn
XR_937683.1:n.719C>T
XR_937684.1:n.719C>T
XR_001755012.2:n.840C>T
XR_001755013.2:n.719C>T
XR_937683.2:n.719C>T
NM_172201.2:c.124G>A MANE Select	NP_751951.1:p.Asp42Asn