Canonical Allele Identifier: CA985918750
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs1024993993
gnomAD v3: 17-70177158-G-C
gnomAD v4: 17-70177158-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70177158G>C , CM000679.2:g.70177158G>C GRCh38
NC_000017.10:g.68173299G>C , CM000679.1:g.68173299G>C GRCh37
NC_000017.9:g.65684894G>C NCBI36
NG_008798.1:g.12624G>C , LRG_328:g.12624G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.*835G>C MANE Select ENSP00000243457.2:n.*835G>C
ENST00000243457.3:c.*835G>C ENSP00000243457.2:n.*835G>C
NM_000891.2:c.*835G>C , LRG_328t1:c.*835G>C NP_000882.1:n.*835G>C
XM_011524779.1:c.*835G>C XP_011523081.1:n.*835G>C
NM_000891.3:c.*835G>C MANE Select NP_000882.1:n.*835G>C
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