Canonical Allele Identifier: CA329696
Gene: KCNJ2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.70175689T>C
GRCh37 chr17:g.68171830T>C
Revel Score:
ENST00000535240 0.971
ENST00000243457 (MANE Select) 0.971
ClinVar RCV:
RCV000058325
ClinVar Variation:
67584
dbSNP:
199473656
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175689T>C , CM000679.2:g.70175689T>C GRCh38
NC_000017.10:g.68171830T>C , CM000679.1:g.68171830T>C GRCh37
NC_000017.9:g.65683425T>C NCBI36
NG_008798.1:g.11155T>C , LRG_328:g.11155T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.650T>C MANE Select ENSP00000243457.2:p.Leu217Pro
ENST00000243457.3:c.650T>C ENSP00000243457.2:p.Leu217Pro
ENST00000535240.1:c.650T>C ENSP00000441848.1:p.Leu217Pro
NM_000891.2:c.650T>C , LRG_328t1:c.650T>C NP_000882.1:p.Leu217Pro
XM_011524779.1:c.650T>C XP_011523081.1:p.Leu217Pro
NM_000891.3:c.650T>C MANE Select NP_000882.1:p.Leu217Pro
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