Canonical Allele Identifier: CA1752730254

Gene: PRKAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151572737_151572743delinsAATATAC , CM000669.2:g.151572737_151572743delinsAATATAC	GRCh38
NC_000007.13:g.151269823_151269829delinsAATATAC , CM000669.1:g.151269823_151269829delinsAATATAC	GRCh37
NC_000007.12:g.150900756_150900762delinsAATATAC	NCBI36
NG_007486.1:g.309488_309494delinsGTATATT
NG_007486.2:g.309489_309495delinsGTATATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.280-34_280-28delinsGTATATT	ENSP00000420645.3:n.280-34_280-28delinsGTATATT
ENST00000652321.2:c.1003-34_1003-28delinsGTATATT	ENSP00000498886.2:n.1003-34_1003-28delinsGTATATT
ENST00000287878.9:c.1006-34_1006-28delinsGTATATT MANE Select	ENSP00000287878.3:n.1006-34_1006-28delinsGTATATT
ENST00000476632.2:c.283-34_283-28delinsGTATATT	ENSP00000419493.2:n.283-34_283-28delinsGTATATT
ENST00000478989.6:c.66-34_66-28delinsGTATATT
ENST00000491938.6:n.349-34_349-28delinsGTATATT
ENST00000492843.6:c.631-34_631-28delinsGTATATT	ENSP00000419577.2:n.631-34_631-28delinsGTATATT
ENST00000650851.1:n.500-34_500-28delinsGTATATT
ENST00000650858.1:c.223-34_223-28delinsGTATATT	ENSP00000498384.1:n.223-34_223-28delinsGTATATT
ENST00000650948.1:n.1121-34_1121-28delinsGTATATT
ENST00000651188.1:c.*246-34_*246-28delinsGTATATT	ENSP00000498557.1:n.*246-34_*246-28delinsGTATATT
ENST00000651290.1:n.149-34_149-28delinsGTATATT
ENST00000651303.1:c.*325-34_*325-28delinsGTATATT	ENSP00000498428.1:n.*325-34_*325-28delinsGTATATT
ENST00000651378.1:c.283-34_283-28delinsGTATATT	ENSP00000499103.1:n.283-34_283-28delinsGTATATT
ENST00000651764.1:c.874-34_874-28delinsGTATATT	ENSP00000498796.1:n.874-34_874-28delinsGTATATT
ENST00000651836.1:c.774-34_774-28delinsGTATATT	ENSP00000499156.1:n.774-34_774-28delinsGTATATT
ENST00000652047.1:c.871-34_871-28delinsGTATATT	ENSP00000499111.1:n.871-34_871-28delinsGTATATT
ENST00000652136.1:n.739-34_739-28delinsGTATATT
ENST00000652159.1:c.874-34_874-28delinsGTATATT	ENSP00000499025.1:n.874-34_874-28delinsGTATATT
ENST00000652397.1:c.283-34_283-28delinsGTATATT	ENSP00000498351.1:n.283-34_283-28delinsGTATATT
ENST00000287878.8:c.1006-34_1006-28delinsGTATATT	ENSP00000287878.3:n.1006-34_1006-28delinsGTATATT
ENST00000392801.6:c.874-34_874-28delinsGTATATT	ENSP00000376549.2:n.874-34_874-28delinsGTATATT
ENST00000418337.6:c.283-34_283-28delinsGTATATT	ENSP00000387386.2:n.283-34_283-28delinsGTATATT
ENST00000476632.1:c.283-34_283-28delinsGTATATT	ENSP00000419493.1:n.283-34_283-28delinsGTATATT
ENST00000478989.5:c.58-34_58-28delinsGTATATT	ENSP00000420645.1:n.58-34_58-28delinsGTATATT
ENST00000488258.5:c.*246-34_*246-28delinsGTATATT	ENSP00000420783.1:n.*246-34_*246-28delinsGTATATT
ENST00000491938.5:n.352-34_352-28delinsGTATATT
ENST00000492843.5:c.634-34_634-28delinsGTATATT	ENSP00000419577.1:n.634-34_634-28delinsGTATATT
ENST00000493872.5:c.*255-34_*255-28delinsGTATATT	ENSP00000417252.1:n.*255-34_*255-28delinsGTATATT
NM_001040633.1:c.874-34_874-28delinsGTATATT	NP_001035723.1:n.874-34_874-28delinsGTATATT
NM_001304527.1:c.631-34_631-28delinsGTATATT	NP_001291456.1:n.631-34_631-28delinsGTATATT
NM_001304531.1:c.283-34_283-28delinsGTATATT	NP_001291460.1:n.283-34_283-28delinsGTATATT
NM_016203.3:c.1006-34_1006-28delinsGTATATT	NP_057287.2:n.1006-34_1006-28delinsGTATATT
NM_024429.1:c.283-34_283-28delinsGTATATT	NP_077747.1:n.283-34_283-28delinsGTATATT
XM_005250002.2:c.1006-34_1006-28delinsGTATATT	XP_005250059.1:n.1006-34_1006-28delinsGTATATT
XM_005250004.2:c.874-34_874-28delinsGTATATT	XP_005250061.1:n.874-34_874-28delinsGTATATT
XM_005250006.3:c.634-34_634-28delinsGTATATT	XP_005250063.1:n.634-34_634-28delinsGTATATT
XM_006716021.2:c.994-34_994-28delinsGTATATT	XP_006716084.1:n.994-34_994-28delinsGTATATT
XM_011516282.1:c.991-34_991-28delinsGTATATT	XP_011514584.1:n.991-34_991-28delinsGTATATT
XM_011516283.1:c.994-34_994-28delinsGTATATT	XP_011514585.1:n.994-34_994-28delinsGTATATT
XM_011516284.1:c.991-34_991-28delinsGTATATT	XP_011514586.1:n.991-34_991-28delinsGTATATT
XM_011516285.1:c.283-34_283-28delinsGTATATT	XP_011514587.1:n.283-34_283-28delinsGTATATT
XM_011516286.1:c.259-34_259-28delinsGTATATT	XP_011514588.1:n.259-34_259-28delinsGTATATT
XM_011516287.1:c.223-34_223-28delinsGTATATT	XP_011514589.1:n.223-34_223-28delinsGTATATT
NM_001363698.1:c.634-34_634-28delinsGTATATT	NP_001350627.1:n.634-34_634-28delinsGTATATT
XM_005250002.4:c.1006-34_1006-28delinsGTATATT	XP_005250059.1:n.1006-34_1006-28delinsGTATATT
XM_005250004.4:c.874-34_874-28delinsGTATATT	XP_005250061.1:n.874-34_874-28delinsGTATATT
XM_005250006.5:c.634-34_634-28delinsGTATATT	XP_005250063.1:n.634-34_634-28delinsGTATATT
XM_011516285.2:c.283-34_283-28delinsGTATATT	XP_011514587.1:n.283-34_283-28delinsGTATATT
XM_011516286.2:c.259-34_259-28delinsGTATATT	XP_011514588.1:n.259-34_259-28delinsGTATATT
XM_017012268.2:c.871-34_871-28delinsGTATATT	XP_016867757.1:n.871-34_871-28delinsGTATATT
XM_017012269.1:c.1003-34_1003-28delinsGTATATT	XP_016867758.1:n.1003-34_1003-28delinsGTATATT
XM_017012270.1:c.874-34_874-28delinsGTATATT	XP_016867759.1:n.874-34_874-28delinsGTATATT
XM_017012271.2:c.871-34_871-28delinsGTATATT	XP_016867760.1:n.871-34_871-28delinsGTATATT
XM_017012272.1:c.871-34_871-28delinsGTATATT	XP_016867761.1:n.871-34_871-28delinsGTATATT
XM_017012274.2:c.280-34_280-28delinsGTATATT	XP_016867763.1:n.280-34_280-28delinsGTATATT
XM_017012275.2:c.223-34_223-28delinsGTATATT	XP_016867764.1:n.223-34_223-28delinsGTATATT
XM_017012276.2:c.280-34_280-28delinsGTATATT	XP_016867765.1:n.280-34_280-28delinsGTATATT
XM_017012277.2:c.259-34_259-28delinsGTATATT	XP_016867766.1:n.259-34_259-28delinsGTATATT
XM_017012278.1:c.223-34_223-28delinsGTATATT	XP_016867767.1:n.223-34_223-28delinsGTATATT
XM_017012279.2:c.223-34_223-28delinsGTATATT	XP_016867768.1:n.223-34_223-28delinsGTATATT
XM_017012280.2:c.223-34_223-28delinsGTATATT	XP_016867769.1:n.223-34_223-28delinsGTATATT
XM_017012281.2:c.223-34_223-28delinsGTATATT	XP_016867770.1:n.223-34_223-28delinsGTATATT
XM_024446786.1:c.874-34_874-28delinsGTATATT	XP_024302554.1:n.874-34_874-28delinsGTATATT
XM_024446787.1:c.283-34_283-28delinsGTATATT	XP_024302555.1:n.283-34_283-28delinsGTATATT
XM_024446788.1:c.280-34_280-28delinsGTATATT	XP_024302556.1:n.280-34_280-28delinsGTATATT
XM_024446789.1:c.283-34_283-28delinsGTATATT	XP_024302557.1:n.283-34_283-28delinsGTATATT
NM_016203.4:c.1006-34_1006-28delinsGTATATT MANE Select	NP_057287.2:n.1006-34_1006-28delinsGTATATT
NM_001040633.2:c.874-34_874-28delinsGTATATT	NP_001035723.1:n.874-34_874-28delinsGTATATT
NM_001304527.2:c.631-34_631-28delinsGTATATT	NP_001291456.1:n.631-34_631-28delinsGTATATT
NM_001304531.2:c.283-34_283-28delinsGTATATT	NP_001291460.1:n.283-34_283-28delinsGTATATT
NM_001363698.2:c.634-34_634-28delinsGTATATT	NP_001350627.1:n.634-34_634-28delinsGTATATT
NM_024429.2:c.283-34_283-28delinsGTATATT	NP_077747.1:n.283-34_283-28delinsGTATATT