Canonical Allele Identifier: CA370071413

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 3073305
• ClinVar RCV Id: RCV004015319
• gnomAD v4: 7-151568721-G-T
• MyVariant Identifiers: chr7:g.151265807G>T (hg19) ; chr7:g.151568721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151568721G>T , CM000669.2:g.151568721G>T	GRCh38
NC_000007.13:g.151265807G>T , CM000669.1:g.151265807G>T	GRCh37
NC_000007.12:g.150896740G>T	NCBI36
NG_007486.1:g.313510C>A
NG_007486.2:g.313511C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.502C>A	ENSP00000420645.3:p.Leu168Ile
ENST00000652321.2:c.1225C>A	ENSP00000498886.2:p.Leu409Ile
ENST00000287878.9:c.1228C>A MANE Select	ENSP00000287878.3:p.Leu410Ile
ENST00000476632.2:c.505C>A	ENSP00000419493.2:p.Leu169Ile
ENST00000478989.6:c.288C>A
ENST00000492843.6:c.853C>A	ENSP00000419577.2:p.Leu285Ile
ENST00000650851.1:n.722C>A
ENST00000650858.1:c.445C>A	ENSP00000498384.1:p.Leu149Ile
ENST00000650948.1:n.1343C>A
ENST00000651188.1:c.*346+1450C>A	ENSP00000498557.1:n.*346+1450C>A
ENST00000651303.1:c.*547C>A	ENSP00000498428.1:n.*547C>A
ENST00000651378.1:c.505C>A	ENSP00000499103.1:p.Leu169Ile
ENST00000651764.1:c.1096C>A	ENSP00000498796.1:p.Leu366Ile
ENST00000651836.1:c.996C>A	ENSP00000499156.1:n.996C>A
ENST00000652047.1:c.1093C>A	ENSP00000499111.1:p.Leu365Ile
ENST00000652136.1:n.961C>A
ENST00000652159.1:c.1096C>A	ENSP00000499025.1:p.Leu366Ile
ENST00000652397.1:c.505C>A	ENSP00000498351.1:p.Leu169Ile
ENST00000287878.8:c.1228C>A	ENSP00000287878.3:p.Leu410Ile
ENST00000392801.6:c.1096C>A	ENSP00000376549.2:p.Leu366Ile
ENST00000418337.6:c.505C>A	ENSP00000387386.2:p.Leu169Ile
ENST00000478989.5:c.280C>A	ENSP00000420645.1:p.Leu94Ile
ENST00000488258.5:c.*468C>A	ENSP00000420783.1:n.*468C>A
ENST00000492843.5:c.856C>A	ENSP00000419577.1:p.Leu286Ile
NM_001040633.1:c.1096C>A	NP_001035723.1:p.Leu366Ile
NM_001304527.1:c.853C>A	NP_001291456.1:p.Leu285Ile
NM_001304531.1:c.505C>A	NP_001291460.1:p.Leu169Ile
NM_016203.3:c.1228C>A	NP_057287.2:p.Leu410Ile
NM_024429.1:c.505C>A	NP_077747.1:p.Leu169Ile
XM_005250002.2:c.1228C>A	XP_005250059.1:p.Leu410Ile
XM_005250004.2:c.1096C>A	XP_005250061.1:p.Leu366Ile
XM_005250006.3:c.856C>A	XP_005250063.1:p.Leu286Ile
XM_006716021.2:c.1216C>A	XP_006716084.1:p.Leu406Ile
XM_011516282.1:c.1213C>A	XP_011514584.1:p.Leu405Ile
XM_011516283.1:c.1216C>A	XP_011514585.1:p.Leu406Ile
XM_011516284.1:c.1213C>A	XP_011514586.1:p.Leu405Ile
XM_011516285.1:c.505C>A	XP_011514587.1:p.Leu169Ile
XM_011516286.1:c.481C>A	XP_011514588.1:p.Leu161Ile
XM_011516287.1:c.445C>A	XP_011514589.1:p.Leu149Ile
NM_001363698.1:c.856C>A	NP_001350627.1:p.Leu286Ile
XM_005250002.4:c.1228C>A	XP_005250059.1:p.Leu410Ile
XM_005250004.4:c.1096C>A	XP_005250061.1:p.Leu366Ile
XM_005250006.5:c.856C>A	XP_005250063.1:p.Leu286Ile
XM_011516285.2:c.505C>A	XP_011514587.1:p.Leu169Ile
XM_011516286.2:c.481C>A	XP_011514588.1:p.Leu161Ile
XM_017012268.2:c.1093C>A	XP_016867757.1:p.Leu365Ile
XM_017012269.1:c.1225C>A	XP_016867758.1:p.Leu409Ile
XM_017012270.1:c.1096C>A	XP_016867759.1:p.Leu366Ile
XM_017012271.2:c.1093C>A	XP_016867760.1:p.Leu365Ile
XM_017012272.1:c.1093C>A	XP_016867761.1:p.Leu365Ile
XM_017012274.2:c.502C>A	XP_016867763.1:p.Leu168Ile
XM_017012275.2:c.445C>A	XP_016867764.1:p.Leu149Ile
XM_017012276.2:c.502C>A	XP_016867765.1:p.Leu168Ile
XM_017012277.2:c.481C>A	XP_016867766.1:p.Leu161Ile
XM_017012278.1:c.445C>A	XP_016867767.1:p.Leu149Ile
XM_017012279.2:c.445C>A	XP_016867768.1:p.Leu149Ile
XM_017012280.2:c.445C>A	XP_016867769.1:p.Leu149Ile
XM_017012281.2:c.445C>A	XP_016867770.1:p.Leu149Ile
XM_024446786.1:c.1096C>A	XP_024302554.1:p.Leu366Ile
XM_024446787.1:c.505C>A	XP_024302555.1:p.Leu169Ile
XM_024446788.1:c.502C>A	XP_024302556.1:p.Leu168Ile
XM_024446789.1:c.505C>A	XP_024302557.1:p.Leu169Ile
NM_016203.4:c.1228C>A MANE Select	NP_057287.2:p.Leu410Ile
NM_001040633.2:c.1096C>A	NP_001035723.1:p.Leu366Ile
NM_001304527.2:c.853C>A	NP_001291456.1:p.Leu285Ile
NM_001304531.2:c.505C>A	NP_001291460.1:p.Leu169Ile
NM_001363698.2:c.856C>A	NP_001350627.1:p.Leu286Ile
NM_024429.2:c.505C>A	NP_077747.1:p.Leu169Ile