Canonical Allele Identifier: CA512345371
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742984G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370685G>T , CM000683.2:g.34370685G>T GRCh38
NC_000021.8:g.35742984G>T , CM000683.1:g.35742984G>T GRCh37
NC_000021.7:g.34664854G>T NCBI36
NG_008804.1:g.11662G>T , LRG_291:g.11662G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.207G>T MANE Select ENSP00000290310.2:p.Val69=
ENST00000290310.3:c.207G>T ENSP00000290310.2:p.Val69=
NM_172201.1:c.207G>T , LRG_291t1:c.207G>T NP_751951.1:p.Val69=
XR_937683.1:n.636C>A
XR_937684.1:n.636C>A
XR_001755012.2:n.757C>A
XR_001755013.2:n.636C>A
XR_937683.2:n.636C>A
NM_172201.2:c.207G>T MANE Select NP_751951.1:p.Val69=