Canonical Allele Identifier: CA400860027
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1778733
ClinVar RCV Id: RCV002399049
MyVariant Identifiers: chr17:g.68171351G>T (hg19) chr17:g.70175210G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175210G>T , CM000679.2:g.70175210G>T GRCh38
NC_000017.10:g.68171351G>T , CM000679.1:g.68171351G>T GRCh37
NC_000017.9:g.65682946G>T NCBI36
NG_008798.1:g.10676G>T , LRG_328:g.10676G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.171G>T MANE Select ENSP00000243457.2:p.Gln57His
ENST00000243457.3:c.171G>T ENSP00000243457.2:p.Gln57His
ENST00000535240.1:c.171G>T ENSP00000441848.1:p.Gln57His
NM_000891.2:c.171G>T , LRG_328t1:c.171G>T NP_000882.1:p.Gln57His
XM_011524779.1:c.171G>T XP_011523081.1:p.Gln57His
NM_000891.3:c.171G>T MANE Select NP_000882.1:p.Gln57His
Search 100 bp 5'
Search 100 bp 3'