Canonical Allele Identifier: CA512345102
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742849C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370550C>T , CM000683.2:g.34370550C>T GRCh38
NC_000021.8:g.35742849C>T , CM000683.1:g.35742849C>T GRCh37
NC_000021.7:g.34664719C>T NCBI36
NG_008804.1:g.11527C>T , LRG_291:g.11527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.72C>T MANE Select ENSP00000290310.2:p.Asp24=
ENST00000290310.3:c.72C>T ENSP00000290310.2:p.Asp24=
NM_172201.1:c.72C>T , LRG_291t1:c.72C>T NP_751951.1:p.Asp24=
NM_172201.2:c.72C>T MANE Select NP_751951.1:p.Asp24=