Canonical Allele Identifier: CA458798330
Gene: PRKAG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151675511_151675512insC , CM000669.2:g.151675511_151675512insC GRCh38
NC_000007.13:g.151372597_151372598insC , CM000669.1:g.151372597_151372598insC GRCh37
NC_000007.12:g.151003530_151003531insC NCBI36
NG_007486.1:g.206719_206720insG
NG_007486.2:g.206720_206721insG

Transcript Alleles

HGVS Amino-acid change
ENST00000652321.2:c.592_593insG ENSP00000498886.2:p.Pro198ArgfsTer?
ENST00000287878.9:c.592_593insG MANE Select ENSP00000287878.3:p.Pro198ArgfsTer?
ENST00000487375.2:n.469_470insG
ENST00000492843.6:c.220_221insG ENSP00000419577.2:p.Pro74ArgfsTer?
ENST00000650858.1:c.-122_-121insG ENSP00000498384.1:n.-122_-121insG
ENST00000650948.1:n.707_708insG
ENST00000651188.1:c.460_461insG ENSP00000498557.1:p.Pro154ArgfsTer?
ENST00000651303.1:c.460_461insG ENSP00000498428.1:p.Pro154ArgfsTer?
ENST00000651378.1:c.-132_-131insG ENSP00000499103.1:n.-132_-131insG
ENST00000651764.1:c.460_461insG ENSP00000498796.1:p.Pro154ArgfsTer?
ENST00000651836.1:c.363_364insG ENSP00000499156.1:n.363_364insG
ENST00000652047.1:c.460_461insG ENSP00000499111.1:p.Pro154ArgfsTer?
ENST00000652136.1:n.328_329insG
ENST00000652159.1:c.460_461insG ENSP00000499025.1:p.Pro154ArgfsTer?
ENST00000652321.1:c.592_593insG ENSP00000498886.1:p.Pro198ArgfsTer?
ENST00000652707.1:c.460_461insG ENSP00000498954.1:p.Pro154ArgfsTer?
ENST00000287878.8:c.592_593insG ENSP00000287878.3:p.Pro198ArgfsTer?
ENST00000392801.6:c.460_461insG ENSP00000376549.2:p.Pro154ArgfsTer?
ENST00000481434.5:n.1097_1098insG
ENST00000487375.1:n.469_470insG
ENST00000488258.5:c.592_593insG ENSP00000420783.1:p.Pro198ArgfsTer?
ENST00000492843.5:c.220_221insG ENSP00000419577.1:p.Pro74ArgfsTer?
NM_001040633.1:c.460_461insG NP_001035723.1:p.Pro154ArgfsTer?
NM_001304527.1:c.220_221insG NP_001291456.1:p.Pro74ArgfsTer?
NM_016203.3:c.592_593insG NP_057287.2:p.Pro198ArgfsTer?
XM_005250002.2:c.592_593insG XP_005250059.1:p.Pro198ArgfsTer?
XM_005250004.2:c.460_461insG XP_005250061.1:p.Pro154ArgfsTer?
XM_005250006.3:c.220_221insG XP_005250063.1:p.Pro74ArgfsTer?
XM_006716021.2:c.580_581insG XP_006716084.1:p.Pro194ArgfsTer?
XM_011516282.1:c.580_581insG XP_011514584.1:p.Pro194ArgfsTer?
XM_011516283.1:c.580_581insG XP_011514585.1:p.Pro194ArgfsTer?
XM_011516284.1:c.580_581insG XP_011514586.1:p.Pro194ArgfsTer?
XM_011516287.1:c.-122_-121insG XP_011514589.1:n.-122_-121insG
NM_001363698.1:c.220_221insG NP_001350627.1:p.Pro74ArgfsTer?
XM_005250002.4:c.592_593insG XP_005250059.1:p.Pro198ArgfsTer?
XM_005250004.4:c.460_461insG XP_005250061.1:p.Pro154ArgfsTer?
XM_005250006.5:c.220_221insG XP_005250063.1:p.Pro74ArgfsTer?
XM_017012268.2:c.460_461insG XP_016867757.1:p.Pro154ArgfsTer?
XM_017012269.1:c.592_593insG XP_016867758.1:p.Pro198ArgfsTer?
XM_017012270.1:c.460_461insG XP_016867759.1:p.Pro154ArgfsTer?
XM_017012271.2:c.460_461insG XP_016867760.1:p.Pro154ArgfsTer?
XM_017012272.1:c.460_461insG XP_016867761.1:p.Pro154ArgfsTer?
XM_017012275.2:c.-119_-118insG XP_016867764.1:n.-119_-118insG
XM_017012276.2:c.-132_-131insG XP_016867765.1:n.-132_-131insG
XM_017012278.1:c.-122_-121insG XP_016867767.1:n.-122_-121insG
XM_017012279.2:c.-122_-121insG XP_016867768.1:n.-122_-121insG
XM_017012280.2:c.-119_-118insG XP_016867769.1:n.-119_-118insG
XM_017012281.2:c.-119_-118insG XP_016867770.1:n.-119_-118insG
XM_024446786.1:c.460_461insG XP_024302554.1:p.Pro154ArgfsTer?
XM_024446787.1:c.-132_-131insG XP_024302555.1:n.-132_-131insG
XM_024446788.1:c.-132_-131insG XP_024302556.1:n.-132_-131insG
XM_024446789.1:c.-132_-131insG XP_024302557.1:n.-132_-131insG
NM_016203.4:c.592_593insG MANE Select NP_057287.2:p.Pro198ArgfsTer?
NM_001040633.2:c.460_461insG NP_001035723.1:p.Pro154ArgfsTer?
NM_001304527.2:c.220_221insG NP_001291456.1:p.Pro74ArgfsTer?
NM_001363698.2:c.220_221insG NP_001350627.1:p.Pro74ArgfsTer?