Canonical Allele Identifier: CA16608631
Gene: KCNJ2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.70175940A>C
GRCh37 chr17:g.68172081A>C
Revel Score:
ENST00000535240 0.689
ENST00000243457 (MANE Select) 0.689
ClinVar RCV:
RCV000435544
RCV000535723
ClinVar Variation:
378921
dbSNP:
786205818
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175940A>C , CM000679.2:g.70175940A>C GRCh38
NC_000017.10:g.68172081A>C , CM000679.1:g.68172081A>C GRCh37
NC_000017.9:g.65683676A>C NCBI36
NG_008798.1:g.11406A>C , LRG_328:g.11406A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.901A>C MANE Select ENSP00000243457.2:p.Met301Leu
ENST00000243457.3:c.901A>C ENSP00000243457.2:p.Met301Leu
ENST00000535240.1:c.901A>C ENSP00000441848.1:p.Met301Leu
NM_000891.2:c.901A>C , LRG_328t1:c.901A>C NP_000882.1:p.Met301Leu
XM_011524779.1:c.901A>C XP_011523081.1:p.Met301Leu
NM_000891.3:c.901A>C MANE Select NP_000882.1:p.Met301Leu
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