Canonical Allele Identifier: CA627290285
Gene: KCNJ2 HGNC NCBI

Linked Data

dbSNP Id: rs570052351
gnomAD v2: 17-68173123-C-T
gnomAD v3: 17-70176982-C-T
gnomAD v4: 17-70176982-C-T
MyVariant Identifiers: chr17:g.68173123C>T (hg19) chr17:g.70176982C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176982C>T , CM000679.2:g.70176982C>T GRCh38
NC_000017.10:g.68173123C>T , CM000679.1:g.68173123C>T GRCh37
NC_000017.9:g.65684718C>T NCBI36
NG_008798.1:g.12448C>T , LRG_328:g.12448C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.*659C>T MANE Select ENSP00000243457.2:n.*659C>T
ENST00000243457.3:c.*659C>T ENSP00000243457.2:n.*659C>T
NM_000891.2:c.*659C>T , LRG_328t1:c.*659C>T NP_000882.1:n.*659C>T
XM_011524779.1:c.*659C>T XP_011523081.1:n.*659C>T
NM_000891.3:c.*659C>T MANE Select NP_000882.1:n.*659C>T
Search 100 bp 5'
Search 100 bp 3'