Canonical Allele Identifier: CA410197261
Gene: KCNE2 HGNC NCBI

Linked Data

COSMIC: COSM385919
MyVariant Identifiers: chr21:g.35743140G>C (hg19) chr21:g.34370841G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370841G>C , CM000683.2:g.34370841G>C GRCh38
NC_000021.8:g.35743140G>C , CM000683.1:g.35743140G>C GRCh37
NC_000021.7:g.34665010G>C NCBI36
NG_008804.1:g.11818G>C , LRG_291:g.11818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.363G>C MANE Select ENSP00000290310.2:p.Met121Ile
ENST00000290310.3:c.363G>C ENSP00000290310.2:p.Met121Ile
NM_172201.1:c.363G>C , LRG_291t1:c.363G>C NP_751951.1:p.Met121Ile
XR_937683.1:n.480C>G
XR_937684.1:n.480C>G
XR_001755012.2:n.601C>G
XR_001755013.2:n.480C>G
XR_937683.2:n.480C>G
NM_172201.2:c.363G>C MANE Select NP_751951.1:p.Met121Ile
Search 100 bp 5'
Search 100 bp 3'