Canonical Allele Identifier: CA2639594407
Gene: KCNJ2 HGNC NCBI

Linked Data

gnomAD v4: 17-70177160-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70177160T>C , CM000679.2:g.70177160T>C GRCh38
NC_000017.10:g.68173301T>C , CM000679.1:g.68173301T>C GRCh37
NC_000017.9:g.65684896T>C NCBI36
NG_008798.1:g.12626T>C , LRG_328:g.12626T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.*837T>C MANE Select ENSP00000243457.2:n.*837T>C
ENST00000243457.3:c.*837T>C ENSP00000243457.2:n.*837T>C
NM_000891.2:c.*837T>C , LRG_328t1:c.*837T>C NP_000882.1:n.*837T>C
XM_011524779.1:c.*837T>C XP_011523081.1:n.*837T>C
NM_000891.3:c.*837T>C MANE Select NP_000882.1:n.*837T>C
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