Canonical Allele Identifier: CA085820
Gene: KCNJ2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.70175250G>C
GRCh37 chr17:g.68171391G>C
Revel Score:
ENST00000535240 0.987
ENST00000243457 (MANE Select) 0.987
ClinVar RCV:
RCV000208360
RCV001067168
ClinVar Variation:
222676
dbSNP:
199473369
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175250G>C , CM000679.2:g.70175250G>C GRCh38
NC_000017.10:g.68171391G>C , CM000679.1:g.68171391G>C GRCh37
NC_000017.9:g.65682986G>C NCBI36
NG_008798.1:g.10716G>C , LRG_328:g.10716G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.211G>C MANE Select ENSP00000243457.2:p.Asp71His
ENST00000243457.3:c.211G>C ENSP00000243457.2:p.Asp71His
ENST00000535240.1:c.211G>C ENSP00000441848.1:p.Asp71His
NM_000891.2:c.211G>C , LRG_328t1:c.211G>C NP_000882.1:p.Asp71His
XM_011524779.1:c.211G>C XP_011523081.1:p.Asp71His
NM_000891.3:c.211G>C MANE Select NP_000882.1:p.Asp71His
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