Canonical Allele Identifier: CA835290563

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 2151759
• ClinVar RCV Id: RCV003074835
• dbSNP Id: rs1400922226
• gnomAD v3: 7-151781384-G-GGGA
• gnomAD v4: 7-151781384-G-GGGA
• MyVariant Identifiers: chr7:g.151478470_151478471insGGA (hg19) ; chr7:g.151781384_151781385insGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151781385_151781386insGAG , CM000669.2:g.151781385_151781386insGAG	GRCh38
NC_000007.13:g.151478471_151478472insGAG , CM000669.1:g.151478471_151478472insGAG	GRCh37
NC_000007.12:g.151109404_151109405insGAG	NCBI36
NG_007486.1:g.100846_100847insTCC
NG_007486.2:g.100847_100848insTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.233_234insTCC	ENSP00000498886.2:p.Ser78_Arg79insPro
ENST00000287878.9:c.233_234insTCC MANE Select	ENSP00000287878.3:p.Ser78_Arg79insPro
ENST00000650858.1:c.-248+33031_-248+33032insTCC	ENSP00000498384.1:n.-248+33031_-248+33032insTCC
ENST00000650948.1:n.348_349insTCC
ENST00000651188.1:c.101_102insTCC	ENSP00000498557.1:p.Ser34_Arg35insPro
ENST00000651303.1:c.101_102insTCC	ENSP00000498428.1:p.Ser34_Arg35insPro
ENST00000651378.1:c.-258+33031_-258+33032insTCC	ENSP00000499103.1:n.-258+33031_-258+33032insTCC
ENST00000651764.1:c.101_102insTCC	ENSP00000498796.1:p.Ser34_Arg35insPro
ENST00000652047.1:c.101_102insTCC	ENSP00000499111.1:p.Ser34_Arg35insPro
ENST00000652159.1:c.101_102insTCC	ENSP00000499025.1:p.Ser34_Arg35insPro
ENST00000652321.1:c.233_234insTCC	ENSP00000498886.1:p.Ser78_Arg79insPro
ENST00000652707.1:c.101_102insTCC	ENSP00000498954.1:p.Ser34_Arg35insPro
ENST00000652714.1:n.406_407insTCC
ENST00000287878.8:c.233_234insTCC	ENSP00000287878.3:p.Ser78_Arg79insPro
ENST00000392801.6:c.101_102insTCC	ENSP00000376549.2:p.Ser34_Arg35insPro
ENST00000461529.1:n.252_253insTCC
ENST00000481434.5:n.738_739insTCC
ENST00000488258.5:c.233_234insTCC	ENSP00000420783.1:p.Ser78_Arg79insPro
NM_001040633.1:c.101_102insTCC	NP_001035723.1:p.Ser34_Arg35insPro
NM_016203.3:c.233_234insTCC	NP_057287.2:p.Ser78_Arg79insPro
XM_005250002.2:c.233_234insTCC	XP_005250059.1:p.Ser78_Arg79insPro
XM_005250004.2:c.101_102insTCC	XP_005250061.1:p.Ser34_Arg35insPro
XM_006716021.2:c.221_222insTCC	XP_006716084.1:p.Ser74_Arg75insPro
XM_011516282.1:c.221_222insTCC	XP_011514584.1:p.Ser74_Arg75insPro
XM_011516283.1:c.221_222insTCC	XP_011514585.1:p.Ser74_Arg75insPro
XM_011516284.1:c.221_222insTCC	XP_011514586.1:p.Ser74_Arg75insPro
XM_011516287.1:c.-481_-480insTCC	XP_011514589.1:n.-481_-480insTCC
XM_005250002.4:c.233_234insTCC	XP_005250059.1:p.Ser78_Arg79insPro
XM_005250004.4:c.101_102insTCC	XP_005250061.1:p.Ser34_Arg35insPro
XM_017012268.2:c.101_102insTCC	XP_016867757.1:p.Ser34_Arg35insPro
XM_017012269.1:c.233_234insTCC	XP_016867758.1:p.Ser78_Arg79insPro
XM_017012270.1:c.101_102insTCC	XP_016867759.1:p.Ser34_Arg35insPro
XM_017012271.2:c.101_102insTCC	XP_016867760.1:p.Ser34_Arg35insPro
XM_017012272.1:c.101_102insTCC	XP_016867761.1:p.Ser34_Arg35insPro
XM_017012275.2:c.-478_-477insTCC	XP_016867764.1:n.-478_-477insTCC
XM_017012276.2:c.-517_-516insTCC	XP_016867765.1:n.-517_-516insTCC
XM_017012278.1:c.-481_-480insTCC	XP_016867767.1:n.-481_-480insTCC
XM_017012279.2:c.-481_-480insTCC	XP_016867768.1:n.-481_-480insTCC
XM_017012280.2:c.-478_-477insTCC	XP_016867769.1:n.-478_-477insTCC
XM_017012281.2:c.-504_-503insTCC	XP_016867770.1:n.-504_-503insTCC
XM_024446786.1:c.101_102insTCC	XP_024302554.1:p.Ser34_Arg35insPro
XM_024446787.1:c.-517_-516insTCC	XP_024302555.1:n.-517_-516insTCC
XM_024446788.1:c.-517_-516insTCC	XP_024302556.1:n.-517_-516insTCC
XM_024446789.1:c.-517_-516insTCC	XP_024302557.1:n.-517_-516insTCC
NM_016203.4:c.233_234insTCC MANE Select	NP_057287.2:p.Ser78_Arg79insPro
NM_001040633.2:c.101_102insTCC	NP_001035723.1:p.Ser34_Arg35insPro