Canonical Allele Identifier: CA1752730284
Gene: PRKAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151572756_151572757delinsGA , CM000669.2:g.151572756_151572757delinsGA GRCh38
NC_000007.13:g.151269842_151269843delinsGA , CM000669.1:g.151269842_151269843delinsGA GRCh37
NC_000007.12:g.150900775_150900776delinsGA NCBI36
NG_007486.1:g.309474_309475delinsTC
NG_007486.2:g.309475_309476delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.280-48_280-47delinsTC ENSP00000420645.3:n.280-48_280-47delinsTC
ENST00000652321.2:c.1003-48_1003-47delinsTC ENSP00000498886.2:n.1003-48_1003-47delinsTC
ENST00000287878.9:c.1006-48_1006-47delinsTC MANE Select ENSP00000287878.3:n.1006-48_1006-47delinsTC
ENST00000476632.2:c.283-48_283-47delinsTC ENSP00000419493.2:n.283-48_283-47delinsTC
ENST00000478989.6:c.66-48_66-47delinsTC
ENST00000491938.6:n.349-48_349-47delinsTC
ENST00000492843.6:c.631-48_631-47delinsTC ENSP00000419577.2:n.631-48_631-47delinsTC
ENST00000650851.1:n.500-48_500-47delinsTC
ENST00000650858.1:c.223-48_223-47delinsTC ENSP00000498384.1:n.223-48_223-47delinsTC
ENST00000650948.1:n.1121-48_1121-47delinsTC
ENST00000651188.1:c.*246-48_*246-47delinsTC ENSP00000498557.1:n.*246-48_*246-47delinsTC
ENST00000651290.1:n.149-48_149-47delinsTC
ENST00000651303.1:c.*325-48_*325-47delinsTC ENSP00000498428.1:n.*325-48_*325-47delinsTC
ENST00000651378.1:c.283-48_283-47delinsTC ENSP00000499103.1:n.283-48_283-47delinsTC
ENST00000651764.1:c.874-48_874-47delinsTC ENSP00000498796.1:n.874-48_874-47delinsTC
ENST00000651836.1:c.774-48_774-47delinsTC ENSP00000499156.1:n.774-48_774-47delinsTC
ENST00000652047.1:c.871-48_871-47delinsTC ENSP00000499111.1:n.871-48_871-47delinsTC
ENST00000652136.1:n.739-48_739-47delinsTC
ENST00000652159.1:c.874-48_874-47delinsTC ENSP00000499025.1:n.874-48_874-47delinsTC
ENST00000652397.1:c.283-48_283-47delinsTC ENSP00000498351.1:n.283-48_283-47delinsTC
ENST00000287878.8:c.1006-48_1006-47delinsTC ENSP00000287878.3:n.1006-48_1006-47delinsTC
ENST00000392801.6:c.874-48_874-47delinsTC ENSP00000376549.2:n.874-48_874-47delinsTC
ENST00000418337.6:c.283-48_283-47delinsTC ENSP00000387386.2:n.283-48_283-47delinsTC
ENST00000476632.1:c.283-48_283-47delinsTC ENSP00000419493.1:n.283-48_283-47delinsTC
ENST00000478989.5:c.58-48_58-47delinsTC ENSP00000420645.1:n.58-48_58-47delinsTC
ENST00000488258.5:c.*246-48_*246-47delinsTC ENSP00000420783.1:n.*246-48_*246-47delinsTC
ENST00000491938.5:n.352-48_352-47delinsTC
ENST00000492843.5:c.634-48_634-47delinsTC ENSP00000419577.1:n.634-48_634-47delinsTC
ENST00000493872.5:c.*255-48_*255-47delinsTC ENSP00000417252.1:n.*255-48_*255-47delinsTC
NM_001040633.1:c.874-48_874-47delinsTC NP_001035723.1:n.874-48_874-47delinsTC
NM_001304527.1:c.631-48_631-47delinsTC NP_001291456.1:n.631-48_631-47delinsTC
NM_001304531.1:c.283-48_283-47delinsTC NP_001291460.1:n.283-48_283-47delinsTC
NM_016203.3:c.1006-48_1006-47delinsTC NP_057287.2:n.1006-48_1006-47delinsTC
NM_024429.1:c.283-48_283-47delinsTC NP_077747.1:n.283-48_283-47delinsTC
XM_005250002.2:c.1006-48_1006-47delinsTC XP_005250059.1:n.1006-48_1006-47delinsTC
XM_005250004.2:c.874-48_874-47delinsTC XP_005250061.1:n.874-48_874-47delinsTC
XM_005250006.3:c.634-48_634-47delinsTC XP_005250063.1:n.634-48_634-47delinsTC
XM_006716021.2:c.994-48_994-47delinsTC XP_006716084.1:n.994-48_994-47delinsTC
XM_011516282.1:c.991-48_991-47delinsTC XP_011514584.1:n.991-48_991-47delinsTC
XM_011516283.1:c.994-48_994-47delinsTC XP_011514585.1:n.994-48_994-47delinsTC
XM_011516284.1:c.991-48_991-47delinsTC XP_011514586.1:n.991-48_991-47delinsTC
XM_011516285.1:c.283-48_283-47delinsTC XP_011514587.1:n.283-48_283-47delinsTC
XM_011516286.1:c.259-48_259-47delinsTC XP_011514588.1:n.259-48_259-47delinsTC
XM_011516287.1:c.223-48_223-47delinsTC XP_011514589.1:n.223-48_223-47delinsTC
NM_001363698.1:c.634-48_634-47delinsTC NP_001350627.1:n.634-48_634-47delinsTC
XM_005250002.4:c.1006-48_1006-47delinsTC XP_005250059.1:n.1006-48_1006-47delinsTC
XM_005250004.4:c.874-48_874-47delinsTC XP_005250061.1:n.874-48_874-47delinsTC
XM_005250006.5:c.634-48_634-47delinsTC XP_005250063.1:n.634-48_634-47delinsTC
XM_011516285.2:c.283-48_283-47delinsTC XP_011514587.1:n.283-48_283-47delinsTC
XM_011516286.2:c.259-48_259-47delinsTC XP_011514588.1:n.259-48_259-47delinsTC
XM_017012268.2:c.871-48_871-47delinsTC XP_016867757.1:n.871-48_871-47delinsTC
XM_017012269.1:c.1003-48_1003-47delinsTC XP_016867758.1:n.1003-48_1003-47delinsTC
XM_017012270.1:c.874-48_874-47delinsTC XP_016867759.1:n.874-48_874-47delinsTC
XM_017012271.2:c.871-48_871-47delinsTC XP_016867760.1:n.871-48_871-47delinsTC
XM_017012272.1:c.871-48_871-47delinsTC XP_016867761.1:n.871-48_871-47delinsTC
XM_017012274.2:c.280-48_280-47delinsTC XP_016867763.1:n.280-48_280-47delinsTC
XM_017012275.2:c.223-48_223-47delinsTC XP_016867764.1:n.223-48_223-47delinsTC
XM_017012276.2:c.280-48_280-47delinsTC XP_016867765.1:n.280-48_280-47delinsTC
XM_017012277.2:c.259-48_259-47delinsTC XP_016867766.1:n.259-48_259-47delinsTC
XM_017012278.1:c.223-48_223-47delinsTC XP_016867767.1:n.223-48_223-47delinsTC
XM_017012279.2:c.223-48_223-47delinsTC XP_016867768.1:n.223-48_223-47delinsTC
XM_017012280.2:c.223-48_223-47delinsTC XP_016867769.1:n.223-48_223-47delinsTC
XM_017012281.2:c.223-48_223-47delinsTC XP_016867770.1:n.223-48_223-47delinsTC
XM_024446786.1:c.874-48_874-47delinsTC XP_024302554.1:n.874-48_874-47delinsTC
XM_024446787.1:c.283-48_283-47delinsTC XP_024302555.1:n.283-48_283-47delinsTC
XM_024446788.1:c.280-48_280-47delinsTC XP_024302556.1:n.280-48_280-47delinsTC
XM_024446789.1:c.283-48_283-47delinsTC XP_024302557.1:n.283-48_283-47delinsTC
NM_016203.4:c.1006-48_1006-47delinsTC MANE Select NP_057287.2:n.1006-48_1006-47delinsTC
NM_001040633.2:c.874-48_874-47delinsTC NP_001035723.1:n.874-48_874-47delinsTC
NM_001304527.2:c.631-48_631-47delinsTC NP_001291456.1:n.631-48_631-47delinsTC
NM_001304531.2:c.283-48_283-47delinsTC NP_001291460.1:n.283-48_283-47delinsTC
NM_001363698.2:c.634-48_634-47delinsTC NP_001350627.1:n.634-48_634-47delinsTC
NM_024429.2:c.283-48_283-47delinsTC NP_077747.1:n.283-48_283-47delinsTC