Canonical Allele Identifier: CA014681

Gene: PRKAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151574929A>T , CM000669.2:g.151574929A>T	GRCh38
NC_000007.13:g.151272015A>T , CM000669.1:g.151272015A>T	GRCh37
NC_000007.12:g.150902948A>T	NCBI36
NG_007486.1:g.307302T>A
NG_007486.2:g.307303T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.241T>A	ENSP00000420645.3:p.Phe81Ile
ENST00000652321.2:c.964T>A	ENSP00000498886.2:p.Phe322Ile
ENST00000287878.9:c.967T>A MANE Select	ENSP00000287878.3:p.Phe323Ile
ENST00000476632.2:c.244T>A	ENSP00000419493.2:p.Phe82Ile
ENST00000478989.6:c.27T>A
ENST00000491938.6:n.310T>A
ENST00000492843.6:c.592T>A	ENSP00000419577.2:p.Phe198Ile
ENST00000650851.1:n.461T>A
ENST00000650858.1:c.184T>A	ENSP00000498384.1:p.Phe62Ile
ENST00000650948.1:n.1082T>A
ENST00000651188.1:c.*207T>A	ENSP00000498557.1:n.*207T>A
ENST00000651290.1:n.148+1442T>A
ENST00000651303.1:c.*286T>A	ENSP00000498428.1:n.*286T>A
ENST00000651378.1:c.244T>A	ENSP00000499103.1:p.Phe82Ile
ENST00000651764.1:c.835T>A	ENSP00000498796.1:p.Phe279Ile
ENST00000651836.1:c.735T>A	ENSP00000499156.1:n.735T>A
ENST00000652047.1:c.832T>A	ENSP00000499111.1:p.Phe278Ile
ENST00000652136.1:n.700T>A
ENST00000652159.1:c.835T>A	ENSP00000499025.1:p.Phe279Ile
ENST00000652397.1:c.244T>A	ENSP00000498351.1:p.Phe82Ile
ENST00000652572.1:n.348T>A
ENST00000287878.8:c.967T>A	ENSP00000287878.3:p.Phe323Ile
ENST00000392801.6:c.835T>A	ENSP00000376549.2:p.Phe279Ile
ENST00000418337.6:c.244T>A	ENSP00000387386.2:p.Phe82Ile
ENST00000476632.1:c.244T>A	ENSP00000419493.1:p.Phe82Ile
ENST00000478989.5:c.19T>A	ENSP00000420645.1:p.Phe7Ile
ENST00000488258.5:c.*207T>A	ENSP00000420783.1:n.*207T>A
ENST00000491938.5:n.313T>A
ENST00000492843.5:c.595T>A	ENSP00000419577.1:p.Phe199Ile
ENST00000493872.5:c.*216T>A	ENSP00000417252.1:n.*216T>A
NM_001040633.1:c.835T>A	NP_001035723.1:p.Phe279Ile
NM_001304527.1:c.592T>A	NP_001291456.1:p.Phe198Ile
NM_001304531.1:c.244T>A	NP_001291460.1:p.Phe82Ile
NM_016203.3:c.967T>A	NP_057287.2:p.Phe323Ile
NM_024429.1:c.244T>A	NP_077747.1:p.Phe82Ile
XM_005250002.2:c.967T>A	XP_005250059.1:p.Phe323Ile
XM_005250004.2:c.835T>A	XP_005250061.1:p.Phe279Ile
XM_005250006.3:c.595T>A	XP_005250063.1:p.Phe199Ile
XM_006716021.2:c.955T>A	XP_006716084.1:p.Phe319Ile
XM_011516282.1:c.952T>A	XP_011514584.1:p.Phe318Ile
XM_011516283.1:c.955T>A	XP_011514585.1:p.Phe319Ile
XM_011516284.1:c.952T>A	XP_011514586.1:p.Phe318Ile
XM_011516285.1:c.244T>A	XP_011514587.1:p.Phe82Ile
XM_011516286.1:c.220T>A	XP_011514588.1:p.Phe74Ile
XM_011516287.1:c.184T>A	XP_011514589.1:p.Phe62Ile
NM_001363698.1:c.595T>A	NP_001350627.1:p.Phe199Ile
XM_005250002.4:c.967T>A	XP_005250059.1:p.Phe323Ile
XM_005250004.4:c.835T>A	XP_005250061.1:p.Phe279Ile
XM_005250006.5:c.595T>A	XP_005250063.1:p.Phe199Ile
XM_011516285.2:c.244T>A	XP_011514587.1:p.Phe82Ile
XM_011516286.2:c.220T>A	XP_011514588.1:p.Phe74Ile
XM_017012268.2:c.832T>A	XP_016867757.1:p.Phe278Ile
XM_017012269.1:c.964T>A	XP_016867758.1:p.Phe322Ile
XM_017012270.1:c.835T>A	XP_016867759.1:p.Phe279Ile
XM_017012271.2:c.832T>A	XP_016867760.1:p.Phe278Ile
XM_017012272.1:c.832T>A	XP_016867761.1:p.Phe278Ile
XM_017012274.2:c.241T>A	XP_016867763.1:p.Phe81Ile
XM_017012275.2:c.184T>A	XP_016867764.1:p.Phe62Ile
XM_017012276.2:c.241T>A	XP_016867765.1:p.Phe81Ile
XM_017012277.2:c.220T>A	XP_016867766.1:p.Phe74Ile
XM_017012278.1:c.184T>A	XP_016867767.1:p.Phe62Ile
XM_017012279.2:c.184T>A	XP_016867768.1:p.Phe62Ile
XM_017012280.2:c.184T>A	XP_016867769.1:p.Phe62Ile
XM_017012281.2:c.184T>A	XP_016867770.1:p.Phe62Ile
XM_024446786.1:c.835T>A	XP_024302554.1:p.Phe279Ile
XM_024446787.1:c.244T>A	XP_024302555.1:p.Phe82Ile
XM_024446788.1:c.241T>A	XP_024302556.1:p.Phe81Ile
XM_024446789.1:c.244T>A	XP_024302557.1:p.Phe82Ile
NM_016203.4:c.967T>A MANE Select	NP_057287.2:p.Phe323Ile
NM_001040633.2:c.835T>A	NP_001035723.1:p.Phe279Ile
NM_001304527.2:c.592T>A	NP_001291456.1:p.Phe198Ile
NM_001304531.2:c.244T>A	NP_001291460.1:p.Phe82Ile
NM_001363698.2:c.595T>A	NP_001350627.1:p.Phe199Ile
NM_024429.2:c.244T>A	NP_077747.1:p.Phe82Ile