Canonical Allele Identifier: CA748856473
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1490300052
MyVariant Identifiers: chr21:g.35742558_35742561del (hg19) chr21:g.34370259_34370262del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370260_34370263del , CM000683.2:g.34370260_34370263del GRCh38
NC_000021.8:g.35742559_35742562del , CM000683.1:g.35742559_35742562del GRCh37
NC_000021.7:g.34664429_34664432del NCBI36
NG_008804.1:g.11237_11240del , LRG_291:g.11237_11240del

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.-12-207_-12-204del MANE Select ENSP00000290310.2:n.-12-207_-12-204del
ENST00000290310.3:c.-12-207_-12-204del ENSP00000290310.2:n.-12-207_-12-204del
NM_172201.1:c.-12-207_-12-204del , LRG_291t1:c.-12-207_-12-204del NP_751951.1:n.-12-207_-12-204del
XR_937683.1:n.886+173_886+176del
XR_937684.1:n.886+173_886+176del
XR_001755012.2:n.1180_1183del
XR_001755013.2:n.1059_1062del
XR_937683.2:n.886+173_886+176del
NM_172201.2:c.-12-207_-12-204del MANE Select NP_751951.1:n.-12-207_-12-204del
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Search 100 bp 3'