Canonical Allele Identifier: CA2685700537

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151572575-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151572578_151572579del , CM000669.2:g.151572578_151572579del	GRCh38
NC_000007.13:g.151269664_151269665del , CM000669.1:g.151269664_151269665del	GRCh37
NC_000007.12:g.150900597_150900598del	NCBI36
NG_007486.1:g.309654_309655del
NG_007486.2:g.309655_309656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.325+87_325+88del	ENSP00000420645.3:n.325+87_325+88del
ENST00000652321.2:c.1048+87_1048+88del	ENSP00000498886.2:n.1048+87_1048+88del
ENST00000287878.9:c.1051+87_1051+88del MANE Select	ENSP00000287878.3:n.1051+87_1051+88del
ENST00000476632.2:c.328+87_328+88del	ENSP00000419493.2:n.328+87_328+88del
ENST00000478989.6:c.111+87_111+88del
ENST00000491938.6:n.481_482del
ENST00000492843.6:c.676+87_676+88del	ENSP00000419577.2:n.676+87_676+88del
ENST00000650851.1:n.545+87_545+88del
ENST00000650858.1:c.268+87_268+88del	ENSP00000498384.1:n.268+87_268+88del
ENST00000650948.1:n.1166+87_1166+88del
ENST00000651188.1:c.*291+87_*291+88del	ENSP00000498557.1:n.*291+87_*291+88del
ENST00000651290.1:n.281_282del
ENST00000651303.1:c.*370+87_*370+88del	ENSP00000498428.1:n.*370+87_*370+88del
ENST00000651378.1:c.328+87_328+88del	ENSP00000499103.1:n.328+87_328+88del
ENST00000651764.1:c.919+87_919+88del	ENSP00000498796.1:n.919+87_919+88del
ENST00000651836.1:c.819+87_819+88del	ENSP00000499156.1:n.819+87_819+88del
ENST00000652047.1:c.916+87_916+88del	ENSP00000499111.1:n.916+87_916+88del
ENST00000652136.1:n.784+87_784+88del
ENST00000652159.1:c.919+87_919+88del	ENSP00000499025.1:n.919+87_919+88del
ENST00000652397.1:c.328+87_328+88del	ENSP00000498351.1:n.328+87_328+88del
ENST00000287878.8:c.1051+87_1051+88del	ENSP00000287878.3:n.1051+87_1051+88del
ENST00000392801.6:c.919+87_919+88del	ENSP00000376549.2:n.919+87_919+88del
ENST00000418337.6:c.328+87_328+88del	ENSP00000387386.2:n.328+87_328+88del
ENST00000476632.1:c.328+87_328+88del	ENSP00000419493.1:n.328+87_328+88del
ENST00000478989.5:c.103+87_103+88del	ENSP00000420645.1:n.103+87_103+88del
ENST00000488258.5:c.*291+87_*291+88del	ENSP00000420783.1:n.*291+87_*291+88del
ENST00000491938.5:n.484_485del
ENST00000492843.5:c.679+87_679+88del	ENSP00000419577.1:n.679+87_679+88del
ENST00000493872.5:c.*300+87_*300+88del	ENSP00000417252.1:n.*300+87_*300+88del
NM_001040633.1:c.919+87_919+88del	NP_001035723.1:n.919+87_919+88del
NM_001304527.1:c.676+87_676+88del	NP_001291456.1:n.676+87_676+88del
NM_001304531.1:c.328+87_328+88del	NP_001291460.1:n.328+87_328+88del
NM_016203.3:c.1051+87_1051+88del	NP_057287.2:n.1051+87_1051+88del
NM_024429.1:c.328+87_328+88del	NP_077747.1:n.328+87_328+88del
XM_005250002.2:c.1051+87_1051+88del	XP_005250059.1:n.1051+87_1051+88del
XM_005250004.2:c.919+87_919+88del	XP_005250061.1:n.919+87_919+88del
XM_005250006.3:c.679+87_679+88del	XP_005250063.1:n.679+87_679+88del
XM_006716021.2:c.1039+87_1039+88del	XP_006716084.1:n.1039+87_1039+88del
XM_011516282.1:c.1036+87_1036+88del	XP_011514584.1:n.1036+87_1036+88del
XM_011516283.1:c.1039+87_1039+88del	XP_011514585.1:n.1039+87_1039+88del
XM_011516284.1:c.1036+87_1036+88del	XP_011514586.1:n.1036+87_1036+88del
XM_011516285.1:c.328+87_328+88del	XP_011514587.1:n.328+87_328+88del
XM_011516286.1:c.304+87_304+88del	XP_011514588.1:n.304+87_304+88del
XM_011516287.1:c.268+87_268+88del	XP_011514589.1:n.268+87_268+88del
NM_001363698.1:c.679+87_679+88del	NP_001350627.1:n.679+87_679+88del
XM_005250002.4:c.1051+87_1051+88del	XP_005250059.1:n.1051+87_1051+88del
XM_005250004.4:c.919+87_919+88del	XP_005250061.1:n.919+87_919+88del
XM_005250006.5:c.679+87_679+88del	XP_005250063.1:n.679+87_679+88del
XM_011516285.2:c.328+87_328+88del	XP_011514587.1:n.328+87_328+88del
XM_011516286.2:c.304+87_304+88del	XP_011514588.1:n.304+87_304+88del
XM_017012268.2:c.916+87_916+88del	XP_016867757.1:n.916+87_916+88del
XM_017012269.1:c.1048+87_1048+88del	XP_016867758.1:n.1048+87_1048+88del
XM_017012270.1:c.919+87_919+88del	XP_016867759.1:n.919+87_919+88del
XM_017012271.2:c.916+87_916+88del	XP_016867760.1:n.916+87_916+88del
XM_017012272.1:c.916+87_916+88del	XP_016867761.1:n.916+87_916+88del
XM_017012274.2:c.325+87_325+88del	XP_016867763.1:n.325+87_325+88del
XM_017012275.2:c.268+87_268+88del	XP_016867764.1:n.268+87_268+88del
XM_017012276.2:c.325+87_325+88del	XP_016867765.1:n.325+87_325+88del
XM_017012277.2:c.304+87_304+88del	XP_016867766.1:n.304+87_304+88del
XM_017012278.1:c.268+87_268+88del	XP_016867767.1:n.268+87_268+88del
XM_017012279.2:c.268+87_268+88del	XP_016867768.1:n.268+87_268+88del
XM_017012280.2:c.268+87_268+88del	XP_016867769.1:n.268+87_268+88del
XM_017012281.2:c.268+87_268+88del	XP_016867770.1:n.268+87_268+88del
XM_024446786.1:c.919+87_919+88del	XP_024302554.1:n.919+87_919+88del
XM_024446787.1:c.328+87_328+88del	XP_024302555.1:n.328+87_328+88del
XM_024446788.1:c.325+87_325+88del	XP_024302556.1:n.325+87_325+88del
XM_024446789.1:c.328+87_328+88del	XP_024302557.1:n.328+87_328+88del
NM_016203.4:c.1051+87_1051+88del MANE Select	NP_057287.2:n.1051+87_1051+88del
NM_001040633.2:c.919+87_919+88del	NP_001035723.1:n.919+87_919+88del
NM_001304527.2:c.676+87_676+88del	NP_001291456.1:n.676+87_676+88del
NM_001304531.2:c.328+87_328+88del	NP_001291460.1:n.328+87_328+88del
NM_001363698.2:c.679+87_679+88del	NP_001350627.1:n.679+87_679+88del
NM_024429.2:c.328+87_328+88del	NP_077747.1:n.328+87_328+88del