Canonical Allele Identifier: CA169180221
Gene: PRKAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151869086_151869087insA , CM000669.2:g.151869086_151869087insA GRCh38
NC_000007.13:g.151566171_151566172insA , CM000669.1:g.151566171_151566172insA GRCh37
NC_000007.12:g.151197104_151197105insA NCBI36
NG_007486.1:g.13145_13146insT
NG_007486.2:g.13145_13146insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000652321.2:c.114+7420_114+7421insT ENSP00000498886.2:n.114+7420_114+7421insT
ENST00000287878.9:c.114+7420_114+7421insT MANE Select ENSP00000287878.3:n.114+7420_114+7421insT
ENST00000652321.1:c.114+7420_114+7421insT ENSP00000498886.1:n.114+7420_114+7421insT
ENST00000287878.8:c.114+7420_114+7421insT ENSP00000287878.3:n.114+7420_114+7421insT
ENST00000474383.1:n.282+7420_282+7421insT
ENST00000481434.5:n.619+7420_619+7421insT
ENST00000488258.5:c.114+7420_114+7421insT ENSP00000420783.1:n.114+7420_114+7421insT
NM_016203.3:c.114+7420_114+7421insT NP_057287.2:n.114+7420_114+7421insT
XM_005250002.2:c.114+7420_114+7421insT XP_005250059.1:n.114+7420_114+7421insT
XM_011516287.1:c.-600+7420_-600+7421insT XP_011514589.1:n.-600+7420_-600+7421insT
XM_005250002.4:c.114+7420_114+7421insT XP_005250059.1:n.114+7420_114+7421insT
XM_017012269.1:c.114+7420_114+7421insT XP_016867758.1:n.114+7420_114+7421insT
XM_017012278.1:c.-600+7420_-600+7421insT XP_016867767.1:n.-600+7420_-600+7421insT
NM_016203.4:c.114+7420_114+7421insT MANE Select NP_057287.2:n.114+7420_114+7421insT