Canonical Allele Identifier: CA370070579

Gene: PRKAG2

Linked Data

• MyVariant Identifiers: chr7:g.151261235A>G (hg19) ; chr7:g.151564149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151564149A>G , CM000669.2:g.151564149A>G	GRCh38
NC_000007.13:g.151261235A>G , CM000669.1:g.151261235A>G	GRCh37
NC_000007.12:g.150892168A>G	NCBI36
NG_007486.1:g.318082T>C
NG_007486.2:g.318083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.*249T>C	ENSP00000420645.3:n.*249T>C
ENST00000652321.2:c.1510T>C	ENSP00000498886.2:p.Phe504Leu
ENST00000287878.9:c.1513T>C MANE Select	ENSP00000287878.3:p.Phe505Leu
ENST00000476632.2:c.790T>C	ENSP00000419493.2:p.Phe264Leu
ENST00000492843.6:c.1138T>C	ENSP00000419577.2:p.Phe380Leu
ENST00000650851.1:n.1007T>C
ENST00000650858.1:c.730T>C	ENSP00000498384.1:p.Phe244Leu
ENST00000650948.1:n.3899T>C
ENST00000651188.1:c.*626T>C	ENSP00000498557.1:n.*626T>C
ENST00000651303.1:c.*832T>C	ENSP00000498428.1:n.*832T>C
ENST00000651378.1:c.790T>C	ENSP00000499103.1:p.Phe264Leu
ENST00000651764.1:c.1381T>C	ENSP00000498796.1:p.Phe461Leu
ENST00000651836.1:c.1703T>C	ENSP00000499156.1:n.1703T>C
ENST00000651954.1:n.1729T>C
ENST00000652047.1:c.1378T>C	ENSP00000499111.1:p.Phe460Leu
ENST00000652136.1:n.2060T>C
ENST00000652159.1:c.1381T>C	ENSP00000499025.1:p.Phe461Leu
ENST00000652397.1:c.*249T>C	ENSP00000498351.1:n.*249T>C
ENST00000287878.8:c.1513T>C	ENSP00000287878.3:p.Phe505Leu
ENST00000392801.6:c.1381T>C	ENSP00000376549.2:p.Phe461Leu
ENST00000418337.6:c.790T>C	ENSP00000387386.2:p.Phe264Leu
ENST00000479461.1:n.165T>C
ENST00000485183.1:n.166T>C
ENST00000492843.5:c.1141T>C	ENSP00000419577.1:p.Phe381Leu
NM_001040633.1:c.1381T>C	NP_001035723.1:p.Phe461Leu
NM_001304527.1:c.1138T>C	NP_001291456.1:p.Phe380Leu
NM_001304531.1:c.790T>C	NP_001291460.1:p.Phe264Leu
NM_016203.3:c.1513T>C	NP_057287.2:p.Phe505Leu
NM_024429.1:c.790T>C	NP_077747.1:p.Phe264Leu
XM_005250002.2:c.1513T>C	XP_005250059.1:p.Phe505Leu
XM_005250004.2:c.1381T>C	XP_005250061.1:p.Phe461Leu
XM_005250006.3:c.1141T>C	XP_005250063.1:p.Phe381Leu
XM_006716021.2:c.1501T>C	XP_006716084.1:p.Phe501Leu
XM_011516282.1:c.1498T>C	XP_011514584.1:p.Phe500Leu
XM_011516283.1:c.1501T>C	XP_011514585.1:p.Phe501Leu
XM_011516284.1:c.1498T>C	XP_011514586.1:p.Phe500Leu
XM_011516285.1:c.790T>C	XP_011514587.1:p.Phe264Leu
XM_011516286.1:c.766T>C	XP_011514588.1:p.Phe256Leu
XM_011516287.1:c.730T>C	XP_011514589.1:p.Phe244Leu
NM_001363698.1:c.1141T>C	NP_001350627.1:p.Phe381Leu
XM_005250002.4:c.1513T>C	XP_005250059.1:p.Phe505Leu
XM_005250004.4:c.1381T>C	XP_005250061.1:p.Phe461Leu
XM_005250006.5:c.1141T>C	XP_005250063.1:p.Phe381Leu
XM_011516285.2:c.790T>C	XP_011514587.1:p.Phe264Leu
XM_011516286.2:c.766T>C	XP_011514588.1:p.Phe256Leu
XM_017012268.2:c.1378T>C	XP_016867757.1:p.Phe460Leu
XM_017012269.1:c.1510T>C	XP_016867758.1:p.Phe504Leu
XM_017012270.1:c.1381T>C	XP_016867759.1:p.Phe461Leu
XM_017012271.2:c.1378T>C	XP_016867760.1:p.Phe460Leu
XM_017012272.1:c.1378T>C	XP_016867761.1:p.Phe460Leu
XM_017012274.2:c.787T>C	XP_016867763.1:p.Phe263Leu
XM_017012275.2:c.730T>C	XP_016867764.1:p.Phe244Leu
XM_017012276.2:c.787T>C	XP_016867765.1:p.Phe263Leu
XM_017012277.2:c.766T>C	XP_016867766.1:p.Phe256Leu
XM_017012278.1:c.730T>C	XP_016867767.1:p.Phe244Leu
XM_017012279.2:c.730T>C	XP_016867768.1:p.Phe244Leu
XM_017012280.2:c.730T>C	XP_016867769.1:p.Phe244Leu
XM_017012281.2:c.730T>C	XP_016867770.1:p.Phe244Leu
XM_024446786.1:c.1381T>C	XP_024302554.1:p.Phe461Leu
XM_024446787.1:c.790T>C	XP_024302555.1:p.Phe264Leu
XM_024446788.1:c.787T>C	XP_024302556.1:p.Phe263Leu
XM_024446789.1:c.790T>C	XP_024302557.1:p.Phe264Leu
NM_016203.4:c.1513T>C MANE Select	NP_057287.2:p.Phe505Leu
NM_001040633.2:c.1381T>C	NP_001035723.1:p.Phe461Leu
NM_001304527.2:c.1138T>C	NP_001291456.1:p.Phe380Leu
NM_001304531.2:c.790T>C	NP_001291460.1:p.Phe264Leu
NM_001363698.2:c.1141T>C	NP_001350627.1:p.Phe381Leu
NM_024429.2:c.790T>C	NP_077747.1:p.Phe264Leu