Canonical Allele Identifier: CA400860018
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs2074385241
MyVariant Identifiers: chr17:g.68171347T>C (hg19) chr17:g.70175206T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175206T>C , CM000679.2:g.70175206T>C GRCh38
NC_000017.10:g.68171347T>C , CM000679.1:g.68171347T>C GRCh37
NC_000017.9:g.65682942T>C NCBI36
NG_008798.1:g.10672T>C , LRG_328:g.10672T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.167T>C MANE Select ENSP00000243457.2:p.Val56Ala
ENST00000243457.3:c.167T>C ENSP00000243457.2:p.Val56Ala
ENST00000535240.1:c.167T>C ENSP00000441848.1:p.Val56Ala
NM_000891.2:c.167T>C , LRG_328t1:c.167T>C NP_000882.1:p.Val56Ala
XM_011524779.1:c.167T>C XP_011523081.1:p.Val56Ala
NM_000891.3:c.167T>C MANE Select NP_000882.1:p.Val56Ala
Search 100 bp 5'
Search 100 bp 3'