Canonical Allele Identifier: CA293703024
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs1032503964
gnomAD v3: 17-70177208-T-C
gnomAD v4: 17-70177208-T-C
MyVariant Identifiers: chr17:g.68173349T>C (hg19) chr17:g.70177208T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70177208T>C , CM000679.2:g.70177208T>C GRCh38
NC_000017.10:g.68173349T>C , CM000679.1:g.68173349T>C GRCh37
NC_000017.9:g.65684944T>C NCBI36
NG_008798.1:g.12674T>C , LRG_328:g.12674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.*885T>C MANE Select ENSP00000243457.2:n.*885T>C
ENST00000243457.3:c.*885T>C ENSP00000243457.2:n.*885T>C
NM_000891.2:c.*885T>C , LRG_328t1:c.*885T>C NP_000882.1:n.*885T>C
XM_011524779.1:c.*885T>C XP_011523081.1:n.*885T>C
NM_000891.3:c.*885T>C MANE Select NP_000882.1:n.*885T>C
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