Canonical Allele Identifier: CA1752730020
Gene: PRKAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151572581_151572582delinsGA , CM000669.2:g.151572581_151572582delinsGA GRCh38
NC_000007.13:g.151269667_151269668delinsGA , CM000669.1:g.151269667_151269668delinsGA GRCh37
NC_000007.12:g.150900600_150900601delinsGA NCBI36
NG_007486.1:g.309649_309650delinsTC
NG_007486.2:g.309650_309651delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.325+82_325+83delinsTC ENSP00000420645.3:n.325+82_325+83delinsTC
ENST00000652321.2:c.1048+82_1048+83delinsTC ENSP00000498886.2:n.1048+82_1048+83delinsTC
ENST00000287878.9:c.1051+82_1051+83delinsTC MANE Select ENSP00000287878.3:n.1051+82_1051+83delinsTC
ENST00000476632.2:c.328+82_328+83delinsTC ENSP00000419493.2:n.328+82_328+83delinsTC
ENST00000478989.6:c.111+82_111+83delinsTC
ENST00000491938.6:n.476_477delinsTC
ENST00000492843.6:c.676+82_676+83delinsTC ENSP00000419577.2:n.676+82_676+83delinsTC
ENST00000650851.1:n.545+82_545+83delinsTC
ENST00000650858.1:c.268+82_268+83delinsTC ENSP00000498384.1:n.268+82_268+83delinsTC
ENST00000650948.1:n.1166+82_1166+83delinsTC
ENST00000651188.1:c.*291+82_*291+83delinsTC ENSP00000498557.1:n.*291+82_*291+83delinsTC
ENST00000651290.1:n.276_277delinsTC
ENST00000651303.1:c.*370+82_*370+83delinsTC ENSP00000498428.1:n.*370+82_*370+83delinsTC
ENST00000651378.1:c.328+82_328+83delinsTC ENSP00000499103.1:n.328+82_328+83delinsTC
ENST00000651764.1:c.919+82_919+83delinsTC ENSP00000498796.1:n.919+82_919+83delinsTC
ENST00000651836.1:c.819+82_819+83delinsTC ENSP00000499156.1:n.819+82_819+83delinsTC
ENST00000652047.1:c.916+82_916+83delinsTC ENSP00000499111.1:n.916+82_916+83delinsTC
ENST00000652136.1:n.784+82_784+83delinsTC
ENST00000652159.1:c.919+82_919+83delinsTC ENSP00000499025.1:n.919+82_919+83delinsTC
ENST00000652397.1:c.328+82_328+83delinsTC ENSP00000498351.1:n.328+82_328+83delinsTC
ENST00000287878.8:c.1051+82_1051+83delinsTC ENSP00000287878.3:n.1051+82_1051+83delinsTC
ENST00000392801.6:c.919+82_919+83delinsTC ENSP00000376549.2:n.919+82_919+83delinsTC
ENST00000418337.6:c.328+82_328+83delinsTC ENSP00000387386.2:n.328+82_328+83delinsTC
ENST00000476632.1:c.328+82_328+83delinsTC ENSP00000419493.1:n.328+82_328+83delinsTC
ENST00000478989.5:c.103+82_103+83delinsTC ENSP00000420645.1:n.103+82_103+83delinsTC
ENST00000488258.5:c.*291+82_*291+83delinsTC ENSP00000420783.1:n.*291+82_*291+83delinsTC
ENST00000491938.5:n.479_480delinsTC
ENST00000492843.5:c.679+82_679+83delinsTC ENSP00000419577.1:n.679+82_679+83delinsTC
ENST00000493872.5:c.*300+82_*300+83delinsTC ENSP00000417252.1:n.*300+82_*300+83delinsTC
NM_001040633.1:c.919+82_919+83delinsTC NP_001035723.1:n.919+82_919+83delinsTC
NM_001304527.1:c.676+82_676+83delinsTC NP_001291456.1:n.676+82_676+83delinsTC
NM_001304531.1:c.328+82_328+83delinsTC NP_001291460.1:n.328+82_328+83delinsTC
NM_016203.3:c.1051+82_1051+83delinsTC NP_057287.2:n.1051+82_1051+83delinsTC
NM_024429.1:c.328+82_328+83delinsTC NP_077747.1:n.328+82_328+83delinsTC
XM_005250002.2:c.1051+82_1051+83delinsTC XP_005250059.1:n.1051+82_1051+83delinsTC
XM_005250004.2:c.919+82_919+83delinsTC XP_005250061.1:n.919+82_919+83delinsTC
XM_005250006.3:c.679+82_679+83delinsTC XP_005250063.1:n.679+82_679+83delinsTC
XM_006716021.2:c.1039+82_1039+83delinsTC XP_006716084.1:n.1039+82_1039+83delinsTC
XM_011516282.1:c.1036+82_1036+83delinsTC XP_011514584.1:n.1036+82_1036+83delinsTC
XM_011516283.1:c.1039+82_1039+83delinsTC XP_011514585.1:n.1039+82_1039+83delinsTC
XM_011516284.1:c.1036+82_1036+83delinsTC XP_011514586.1:n.1036+82_1036+83delinsTC
XM_011516285.1:c.328+82_328+83delinsTC XP_011514587.1:n.328+82_328+83delinsTC
XM_011516286.1:c.304+82_304+83delinsTC XP_011514588.1:n.304+82_304+83delinsTC
XM_011516287.1:c.268+82_268+83delinsTC XP_011514589.1:n.268+82_268+83delinsTC
NM_001363698.1:c.679+82_679+83delinsTC NP_001350627.1:n.679+82_679+83delinsTC
XM_005250002.4:c.1051+82_1051+83delinsTC XP_005250059.1:n.1051+82_1051+83delinsTC
XM_005250004.4:c.919+82_919+83delinsTC XP_005250061.1:n.919+82_919+83delinsTC
XM_005250006.5:c.679+82_679+83delinsTC XP_005250063.1:n.679+82_679+83delinsTC
XM_011516285.2:c.328+82_328+83delinsTC XP_011514587.1:n.328+82_328+83delinsTC
XM_011516286.2:c.304+82_304+83delinsTC XP_011514588.1:n.304+82_304+83delinsTC
XM_017012268.2:c.916+82_916+83delinsTC XP_016867757.1:n.916+82_916+83delinsTC
XM_017012269.1:c.1048+82_1048+83delinsTC XP_016867758.1:n.1048+82_1048+83delinsTC
XM_017012270.1:c.919+82_919+83delinsTC XP_016867759.1:n.919+82_919+83delinsTC
XM_017012271.2:c.916+82_916+83delinsTC XP_016867760.1:n.916+82_916+83delinsTC
XM_017012272.1:c.916+82_916+83delinsTC XP_016867761.1:n.916+82_916+83delinsTC
XM_017012274.2:c.325+82_325+83delinsTC XP_016867763.1:n.325+82_325+83delinsTC
XM_017012275.2:c.268+82_268+83delinsTC XP_016867764.1:n.268+82_268+83delinsTC
XM_017012276.2:c.325+82_325+83delinsTC XP_016867765.1:n.325+82_325+83delinsTC
XM_017012277.2:c.304+82_304+83delinsTC XP_016867766.1:n.304+82_304+83delinsTC
XM_017012278.1:c.268+82_268+83delinsTC XP_016867767.1:n.268+82_268+83delinsTC
XM_017012279.2:c.268+82_268+83delinsTC XP_016867768.1:n.268+82_268+83delinsTC
XM_017012280.2:c.268+82_268+83delinsTC XP_016867769.1:n.268+82_268+83delinsTC
XM_017012281.2:c.268+82_268+83delinsTC XP_016867770.1:n.268+82_268+83delinsTC
XM_024446786.1:c.919+82_919+83delinsTC XP_024302554.1:n.919+82_919+83delinsTC
XM_024446787.1:c.328+82_328+83delinsTC XP_024302555.1:n.328+82_328+83delinsTC
XM_024446788.1:c.325+82_325+83delinsTC XP_024302556.1:n.325+82_325+83delinsTC
XM_024446789.1:c.328+82_328+83delinsTC XP_024302557.1:n.328+82_328+83delinsTC
NM_016203.4:c.1051+82_1051+83delinsTC MANE Select NP_057287.2:n.1051+82_1051+83delinsTC
NM_001040633.2:c.919+82_919+83delinsTC NP_001035723.1:n.919+82_919+83delinsTC
NM_001304527.2:c.676+82_676+83delinsTC NP_001291456.1:n.676+82_676+83delinsTC
NM_001304531.2:c.328+82_328+83delinsTC NP_001291460.1:n.328+82_328+83delinsTC
NM_001363698.2:c.679+82_679+83delinsTC NP_001350627.1:n.679+82_679+83delinsTC
NM_024429.2:c.328+82_328+83delinsTC NP_077747.1:n.328+82_328+83delinsTC