Canonical Allele Identifier: CA8738674
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 324829
ClinVar RCV Id: RCV000286728 RCV000344021 RCV000380135 RCV000437119 RCV000617614
dbSNP Id: rs144760658
ExAC: 17:68171179 C / T
gnomAD v2: 17-68171179-C-T
gnomAD v3: 17-70175038-C-T
gnomAD v4: 17-70175038-C-T
MyVariant Identifiers: chr17:g.68171179C>T (hg19) chr17:g.70175038C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175038C>T , CM000679.2:g.70175038C>T GRCh38
NC_000017.10:g.68171179C>T , CM000679.1:g.68171179C>T GRCh37
NC_000017.9:g.65682774C>T NCBI36
NG_008798.1:g.10504C>T , LRG_328:g.10504C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.-2C>T MANE Select ENSP00000243457.2:n.-2C>T
ENST00000243457.3:c.-2C>T ENSP00000243457.2:n.-2C>T
ENST00000535240.1:c.-2C>T ENSP00000441848.1:n.-2C>T
NM_000891.2:c.-2C>T , LRG_328t1:c.-2C>T NP_000882.1:n.-2C>T
XM_011524779.1:c.-2C>T XP_011523081.1:n.-2C>T
NM_000891.3:c.-2C>T MANE Select NP_000882.1:n.-2C>T
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