Canonical Allele Identifier: CA320365690
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs964015129
gnomAD v2: 21-35742601-G-A
gnomAD v3: 21-34370302-G-A
gnomAD v4: 21-34370302-G-A
MyVariant Identifiers: chr21:g.35742601G>A (hg19) chr21:g.34370302G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370302G>A , CM000683.2:g.34370302G>A GRCh38
NC_000021.8:g.35742601G>A , CM000683.1:g.35742601G>A GRCh37
NC_000021.7:g.34664471G>A NCBI36
NG_008804.1:g.11279G>A , LRG_291:g.11279G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.-12-165G>A MANE Select ENSP00000290310.2:n.-12-165G>A
ENST00000290310.3:c.-12-165G>A ENSP00000290310.2:n.-12-165G>A
NM_172201.1:c.-12-165G>A , LRG_291t1:c.-12-165G>A NP_751951.1:n.-12-165G>A
XR_937683.1:n.886+133C>T
XR_937684.1:n.886+133C>T
XR_001755012.2:n.1140C>T
XR_001755013.2:n.1019C>T
XR_937683.2:n.886+133C>T
NM_172201.2:c.-12-165G>A MANE Select NP_751951.1:n.-12-165G>A
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