Canonical Allele Identifier: CA2778444232
Gene: PRKAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151572723_151572724insCCAAACACACCCAACAC , CM000669.2:g.151572723_151572724insCCAAACACACCCAACAC GRCh38
NC_000007.13:g.151269809_151269810insCCAAACACACCCAACAC , CM000669.1:g.151269809_151269810insCCAAACACACCCAACAC GRCh37
NC_000007.12:g.150900742_150900743insCCAAACACACCCAACAC NCBI36
NG_007486.1:g.309507_309508insGTGTTGGGTGTGTTTGG
NG_007486.2:g.309508_309509insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.280-15_280-14insGTGTTGGGTGTGTTTGG ENSP00000420645.3:n.280-15_280-14insGTGTTGGGTGTGTTTGG
ENST00000652321.2:c.1003-15_1003-14insGTGTTGGGTGTGTTTGG ENSP00000498886.2:n.1003-15_1003-14insGTGTTGGGTGTGTTTGG
ENST00000287878.9:c.1006-15_1006-14insGTGTTGGGTGTGTTTGG MANE Select ENSP00000287878.3:n.1006-15_1006-14insGTGTTGGGTGTGTTTGG
ENST00000476632.2:c.283-15_283-14insGTGTTGGGTGTGTTTGG ENSP00000419493.2:n.283-15_283-14insGTGTTGGGTGTGTTTGG
ENST00000478989.6:c.66-15_66-14insGTGTTGGGTGTGTTTGG
ENST00000491938.6:n.349-15_349-14insGTGTTGGGTGTGTTTGG
ENST00000492843.6:c.631-15_631-14insGTGTTGGGTGTGTTTGG ENSP00000419577.2:n.631-15_631-14insGTGTTGGGTGTGTTTGG
ENST00000650851.1:n.500-15_500-14insGTGTTGGGTGTGTTTGG
ENST00000650858.1:c.223-15_223-14insGTGTTGGGTGTGTTTGG ENSP00000498384.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
ENST00000650948.1:n.1121-15_1121-14insGTGTTGGGTGTGTTTGG
ENST00000651188.1:c.*246-15_*246-14insGTGTTGGGTGTGTTTGG ENSP00000498557.1:n.*246-15_*246-14insGTGTTGGGTGTGTTTGG
ENST00000651290.1:n.149-15_149-14insGTGTTGGGTGTGTTTGG
ENST00000651303.1:c.*325-15_*325-14insGTGTTGGGTGTGTTTGG ENSP00000498428.1:n.*325-15_*325-14insGTGTTGGGTGTGTTTGG
ENST00000651378.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG ENSP00000499103.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
ENST00000651764.1:c.874-15_874-14insGTGTTGGGTGTGTTTGG ENSP00000498796.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
ENST00000651836.1:c.774-15_774-14insGTGTTGGGTGTGTTTGG ENSP00000499156.1:n.774-15_774-14insGTGTTGGGTGTGTTTGG
ENST00000652047.1:c.871-15_871-14insGTGTTGGGTGTGTTTGG ENSP00000499111.1:n.871-15_871-14insGTGTTGGGTGTGTTTGG
ENST00000652136.1:n.739-15_739-14insGTGTTGGGTGTGTTTGG
ENST00000652159.1:c.874-15_874-14insGTGTTGGGTGTGTTTGG ENSP00000499025.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
ENST00000652397.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG ENSP00000498351.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
ENST00000287878.8:c.1006-15_1006-14insGTGTTGGGTGTGTTTGG ENSP00000287878.3:n.1006-15_1006-14insGTGTTGGGTGTGTTTGG
ENST00000392801.6:c.874-15_874-14insGTGTTGGGTGTGTTTGG ENSP00000376549.2:n.874-15_874-14insGTGTTGGGTGTGTTTGG
ENST00000418337.6:c.283-15_283-14insGTGTTGGGTGTGTTTGG ENSP00000387386.2:n.283-15_283-14insGTGTTGGGTGTGTTTGG
ENST00000476632.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG ENSP00000419493.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
ENST00000478989.5:c.58-15_58-14insGTGTTGGGTGTGTTTGG ENSP00000420645.1:n.58-15_58-14insGTGTTGGGTGTGTTTGG
ENST00000488258.5:c.*246-15_*246-14insGTGTTGGGTGTGTTTGG ENSP00000420783.1:n.*246-15_*246-14insGTGTTGGGTGTGTTTGG
ENST00000491938.5:n.352-15_352-14insGTGTTGGGTGTGTTTGG
ENST00000492843.5:c.634-15_634-14insGTGTTGGGTGTGTTTGG ENSP00000419577.1:n.634-15_634-14insGTGTTGGGTGTGTTTGG
ENST00000493872.5:c.*255-15_*255-14insGTGTTGGGTGTGTTTGG ENSP00000417252.1:n.*255-15_*255-14insGTGTTGGGTGTGTTTGG
NM_001040633.1:c.874-15_874-14insGTGTTGGGTGTGTTTGG NP_001035723.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
NM_001304527.1:c.631-15_631-14insGTGTTGGGTGTGTTTGG NP_001291456.1:n.631-15_631-14insGTGTTGGGTGTGTTTGG
NM_001304531.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG NP_001291460.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
NM_016203.3:c.1006-15_1006-14insGTGTTGGGTGTGTTTGG NP_057287.2:n.1006-15_1006-14insGTGTTGGGTGTGTTTGG
NM_024429.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG NP_077747.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
XM_005250002.2:c.1006-15_1006-14insGTGTTGGGTGTGTTTGG XP_005250059.1:n.1006-15_1006-14insGTGTTGGGTGTGTTTGG
XM_005250004.2:c.874-15_874-14insGTGTTGGGTGTGTTTGG XP_005250061.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
XM_005250006.3:c.634-15_634-14insGTGTTGGGTGTGTTTGG XP_005250063.1:n.634-15_634-14insGTGTTGGGTGTGTTTGG
XM_006716021.2:c.994-15_994-14insGTGTTGGGTGTGTTTGG XP_006716084.1:n.994-15_994-14insGTGTTGGGTGTGTTTGG
XM_011516282.1:c.991-15_991-14insGTGTTGGGTGTGTTTGG XP_011514584.1:n.991-15_991-14insGTGTTGGGTGTGTTTGG
XM_011516283.1:c.994-15_994-14insGTGTTGGGTGTGTTTGG XP_011514585.1:n.994-15_994-14insGTGTTGGGTGTGTTTGG
XM_011516284.1:c.991-15_991-14insGTGTTGGGTGTGTTTGG XP_011514586.1:n.991-15_991-14insGTGTTGGGTGTGTTTGG
XM_011516285.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG XP_011514587.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
XM_011516286.1:c.259-15_259-14insGTGTTGGGTGTGTTTGG XP_011514588.1:n.259-15_259-14insGTGTTGGGTGTGTTTGG
XM_011516287.1:c.223-15_223-14insGTGTTGGGTGTGTTTGG XP_011514589.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
NM_001363698.1:c.634-15_634-14insGTGTTGGGTGTGTTTGG NP_001350627.1:n.634-15_634-14insGTGTTGGGTGTGTTTGG
XM_005250002.4:c.1006-15_1006-14insGTGTTGGGTGTGTTTGG XP_005250059.1:n.1006-15_1006-14insGTGTTGGGTGTGTTTGG
XM_005250004.4:c.874-15_874-14insGTGTTGGGTGTGTTTGG XP_005250061.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
XM_005250006.5:c.634-15_634-14insGTGTTGGGTGTGTTTGG XP_005250063.1:n.634-15_634-14insGTGTTGGGTGTGTTTGG
XM_011516285.2:c.283-15_283-14insGTGTTGGGTGTGTTTGG XP_011514587.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
XM_011516286.2:c.259-15_259-14insGTGTTGGGTGTGTTTGG XP_011514588.1:n.259-15_259-14insGTGTTGGGTGTGTTTGG
XM_017012268.2:c.871-15_871-14insGTGTTGGGTGTGTTTGG XP_016867757.1:n.871-15_871-14insGTGTTGGGTGTGTTTGG
XM_017012269.1:c.1003-15_1003-14insGTGTTGGGTGTGTTTGG XP_016867758.1:n.1003-15_1003-14insGTGTTGGGTGTGTTTGG
XM_017012270.1:c.874-15_874-14insGTGTTGGGTGTGTTTGG XP_016867759.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
XM_017012271.2:c.871-15_871-14insGTGTTGGGTGTGTTTGG XP_016867760.1:n.871-15_871-14insGTGTTGGGTGTGTTTGG
XM_017012272.1:c.871-15_871-14insGTGTTGGGTGTGTTTGG XP_016867761.1:n.871-15_871-14insGTGTTGGGTGTGTTTGG
XM_017012274.2:c.280-15_280-14insGTGTTGGGTGTGTTTGG XP_016867763.1:n.280-15_280-14insGTGTTGGGTGTGTTTGG
XM_017012275.2:c.223-15_223-14insGTGTTGGGTGTGTTTGG XP_016867764.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
XM_017012276.2:c.280-15_280-14insGTGTTGGGTGTGTTTGG XP_016867765.1:n.280-15_280-14insGTGTTGGGTGTGTTTGG
XM_017012277.2:c.259-15_259-14insGTGTTGGGTGTGTTTGG XP_016867766.1:n.259-15_259-14insGTGTTGGGTGTGTTTGG
XM_017012278.1:c.223-15_223-14insGTGTTGGGTGTGTTTGG XP_016867767.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
XM_017012279.2:c.223-15_223-14insGTGTTGGGTGTGTTTGG XP_016867768.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
XM_017012280.2:c.223-15_223-14insGTGTTGGGTGTGTTTGG XP_016867769.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
XM_017012281.2:c.223-15_223-14insGTGTTGGGTGTGTTTGG XP_016867770.1:n.223-15_223-14insGTGTTGGGTGTGTTTGG
XM_024446786.1:c.874-15_874-14insGTGTTGGGTGTGTTTGG XP_024302554.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
XM_024446787.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG XP_024302555.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
XM_024446788.1:c.280-15_280-14insGTGTTGGGTGTGTTTGG XP_024302556.1:n.280-15_280-14insGTGTTGGGTGTGTTTGG
XM_024446789.1:c.283-15_283-14insGTGTTGGGTGTGTTTGG XP_024302557.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
NM_016203.4:c.1006-15_1006-14insGTGTTGGGTGTGTTTGG MANE Select NP_057287.2:n.1006-15_1006-14insGTGTTGGGTGTGTTTGG
NM_001040633.2:c.874-15_874-14insGTGTTGGGTGTGTTTGG NP_001035723.1:n.874-15_874-14insGTGTTGGGTGTGTTTGG
NM_001304527.2:c.631-15_631-14insGTGTTGGGTGTGTTTGG NP_001291456.1:n.631-15_631-14insGTGTTGGGTGTGTTTGG
NM_001304531.2:c.283-15_283-14insGTGTTGGGTGTGTTTGG NP_001291460.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG
NM_001363698.2:c.634-15_634-14insGTGTTGGGTGTGTTTGG NP_001350627.1:n.634-15_634-14insGTGTTGGGTGTGTTTGG
NM_024429.2:c.283-15_283-14insGTGTTGGGTGTGTTTGG NP_077747.1:n.283-15_283-14insGTGTTGGGTGTGTTTGG