Canonical Allele Identifier: CA2685703719

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151781317-A-AGCCGGGGCTGGTCTTGGGCCTCACAGGTGCAGACATGGGGCTGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151781329_151781375dup , CM000669.2:g.151781329_151781375dup	GRCh38
NC_000007.13:g.151478415_151478461dup , CM000669.1:g.151478415_151478461dup	GRCh37
NC_000007.12:g.151109348_151109394dup	NCBI36
NG_007486.1:g.100867_100913dup
NG_007486.2:g.100868_100914dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.254_300dup	ENSP00000498886.2:p.Ser101ProfsTer9
ENST00000287878.9:c.254_300dup MANE Select	ENSP00000287878.3:p.Ser101ProfsTer9
ENST00000650858.1:c.-248+33052_-248+33098dup	ENSP00000498384.1:n.-248+33052_-248+33098dup
ENST00000650948.1:n.369_415dup
ENST00000651188.1:c.122_168dup	ENSP00000498557.1:p.Ser57ProfsTer9
ENST00000651303.1:c.122_168dup	ENSP00000498428.1:p.Ser57ProfsTer9
ENST00000651378.1:c.-258+33052_-258+33098dup	ENSP00000499103.1:n.-258+33052_-258+33098dup
ENST00000651764.1:c.122_168dup	ENSP00000498796.1:p.Ser57ProfsTer9
ENST00000652047.1:c.122_168dup	ENSP00000499111.1:p.Ser57ProfsTer9
ENST00000652159.1:c.122_168dup	ENSP00000499025.1:p.Ser57ProfsTer9
ENST00000652321.1:c.254_300dup	ENSP00000498886.1:p.Ser101ProfsTer9
ENST00000652707.1:c.122_168dup	ENSP00000498954.1:p.Ser57ProfsTer9
ENST00000652714.1:n.427_473dup
ENST00000287878.8:c.254_300dup	ENSP00000287878.3:p.Ser101ProfsTer9
ENST00000392801.6:c.122_168dup	ENSP00000376549.2:p.Ser57ProfsTer9
ENST00000461529.1:n.273_319dup
ENST00000481434.5:n.759_805dup
ENST00000488258.5:c.254_300dup	ENSP00000420783.1:p.Ser101ProfsTer9
NM_001040633.1:c.122_168dup	NP_001035723.1:p.Ser57ProfsTer9
NM_016203.3:c.254_300dup	NP_057287.2:p.Ser101ProfsTer9
XM_005250002.2:c.254_300dup	XP_005250059.1:p.Ser101ProfsTer9
XM_005250004.2:c.122_168dup	XP_005250061.1:p.Ser57ProfsTer9
XM_006716021.2:c.242_288dup	XP_006716084.1:p.Ser97ProfsTer9
XM_011516282.1:c.242_288dup	XP_011514584.1:p.Ser97ProfsTer9
XM_011516283.1:c.242_288dup	XP_011514585.1:p.Ser97ProfsTer9
XM_011516284.1:c.242_288dup	XP_011514586.1:p.Ser97ProfsTer9
XM_011516287.1:c.-460_-414dup	XP_011514589.1:n.-460_-414dup
XM_005250002.4:c.254_300dup	XP_005250059.1:p.Ser101ProfsTer9
XM_005250004.4:c.122_168dup	XP_005250061.1:p.Ser57ProfsTer9
XM_017012268.2:c.122_168dup	XP_016867757.1:p.Ser57ProfsTer9
XM_017012269.1:c.254_300dup	XP_016867758.1:p.Ser101ProfsTer9
XM_017012270.1:c.122_168dup	XP_016867759.1:p.Ser57ProfsTer9
XM_017012271.2:c.122_168dup	XP_016867760.1:p.Ser57ProfsTer9
XM_017012272.1:c.122_168dup	XP_016867761.1:p.Ser57ProfsTer9
XM_017012275.2:c.-457_-411dup	XP_016867764.1:n.-457_-411dup
XM_017012276.2:c.-496_-450dup	XP_016867765.1:n.-496_-450dup
XM_017012278.1:c.-460_-414dup	XP_016867767.1:n.-460_-414dup
XM_017012279.2:c.-460_-414dup	XP_016867768.1:n.-460_-414dup
XM_017012280.2:c.-457_-411dup	XP_016867769.1:n.-457_-411dup
XM_017012281.2:c.-483_-437dup	XP_016867770.1:n.-483_-437dup
XM_024446786.1:c.122_168dup	XP_024302554.1:p.Ser57ProfsTer9
XM_024446787.1:c.-496_-450dup	XP_024302555.1:n.-496_-450dup
XM_024446788.1:c.-496_-450dup	XP_024302556.1:n.-496_-450dup
XM_024446789.1:c.-496_-450dup	XP_024302557.1:n.-496_-450dup
NM_016203.4:c.254_300dup MANE Select	NP_057287.2:p.Ser101ProfsTer9
NM_001040633.2:c.122_168dup	NP_001035723.1:p.Ser57ProfsTer9