Canonical Allele Identifier: CA512345323
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742948T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370649T>C , CM000683.2:g.34370649T>C GRCh38
NC_000021.8:g.35742948T>C , CM000683.1:g.35742948T>C GRCh37
NC_000021.7:g.34664818T>C NCBI36
NG_008804.1:g.11626T>C , LRG_291:g.11626T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.171T>C MANE Select ENSP00000290310.2:p.Ile57=
ENST00000290310.3:c.171T>C ENSP00000290310.2:p.Ile57=
NM_172201.1:c.171T>C , LRG_291t1:c.171T>C NP_751951.1:p.Ile57=
NM_172201.2:c.171T>C MANE Select NP_751951.1:p.Ile57=