Canonical Allele Identifier: CA410196823

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35743028A>C (hg19) ; chr21:g.34370729A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370729A>C , CM000683.2:g.34370729A>C	GRCh38
NC_000021.8:g.35743028A>C , CM000683.1:g.35743028A>C	GRCh37
NC_000021.7:g.34664898A>C	NCBI36
NG_008804.1:g.11706A>C , LRG_291:g.11706A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.251A>C MANE Select	ENSP00000290310.2:p.Tyr84Ser
ENST00000290310.3:c.251A>C	ENSP00000290310.2:p.Tyr84Ser
NM_172201.1:c.251A>C , LRG_291t1:c.251A>C	NP_751951.1:p.Tyr84Ser
XR_937683.1:n.592T>G
XR_937684.1:n.592T>G
XR_001755012.2:n.713T>G
XR_001755013.2:n.592T>G
XR_937683.2:n.592T>G
NM_172201.2:c.251A>C MANE Select	NP_751951.1:p.Tyr84Ser