Canonical Allele Identifier: CA1139665862
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 981438
ClinVar RCV Id: RCV001260872 RCV001379609
dbSNP Id: rs2074390325
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175978_70175983del , CM000679.2:g.70175978_70175983del GRCh38
NC_000017.10:g.68172119_68172124del , CM000679.1:g.68172119_68172124del GRCh37
NC_000017.9:g.65683714_65683719del NCBI36
NG_008798.1:g.11444_11449del , LRG_328:g.11444_11449del

Transcript Alleles

HGVS Amino-acid change
ENST00000243457.4:c.939_944del MANE Select ENSP00000243457.2:p.Ser314_Tyr315del
ENST00000243457.3:c.939_944del ENSP00000243457.2:p.Ser314_Tyr315del
ENST00000535240.1:c.939_944del ENSP00000441848.1:p.Ser314_Tyr315del
NM_000891.2:c.939_944del , LRG_328t1:c.939_944del NP_000882.1:p.Ser314_Tyr315del
XM_011524779.1:c.939_944del XP_011523081.1:p.Ser314_Tyr315del
NM_000891.3:c.939_944del MANE Select NP_000882.1:p.Ser314_Tyr315del
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