Canonical Allele Identifier: CA370071494

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 1171883
• ClinVar RCV Id: RCV001525321
• dbSNP Id: rs2151008313
• MyVariant Identifiers: chr7:g.151265843T>C (hg19) ; chr7:g.151568757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151568757T>C , CM000669.2:g.151568757T>C	GRCh38
NC_000007.13:g.151265843T>C , CM000669.1:g.151265843T>C	GRCh37
NC_000007.12:g.150896776T>C	NCBI36
NG_007486.1:g.313474A>G
NG_007486.2:g.313475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.466A>G	ENSP00000420645.3:p.Ile156Val
ENST00000652321.2:c.1189A>G	ENSP00000498886.2:p.Ile397Val
ENST00000287878.9:c.1192A>G MANE Select	ENSP00000287878.3:p.Ile398Val
ENST00000476632.2:c.469A>G	ENSP00000419493.2:p.Ile157Val
ENST00000478989.6:c.252A>G
ENST00000492843.6:c.817A>G	ENSP00000419577.2:p.Ile273Val
ENST00000650851.1:n.686A>G
ENST00000650858.1:c.409A>G	ENSP00000498384.1:p.Ile137Val
ENST00000650948.1:n.1307A>G
ENST00000651188.1:c.*346+1414A>G	ENSP00000498557.1:n.*346+1414A>G
ENST00000651303.1:c.*511A>G	ENSP00000498428.1:n.*511A>G
ENST00000651378.1:c.469A>G	ENSP00000499103.1:p.Ile157Val
ENST00000651764.1:c.1060A>G	ENSP00000498796.1:p.Ile354Val
ENST00000651836.1:c.960A>G	ENSP00000499156.1:n.960A>G
ENST00000652047.1:c.1057A>G	ENSP00000499111.1:p.Ile353Val
ENST00000652136.1:n.925A>G
ENST00000652159.1:c.1060A>G	ENSP00000499025.1:p.Ile354Val
ENST00000652397.1:c.469A>G	ENSP00000498351.1:p.Ile157Val
ENST00000287878.8:c.1192A>G	ENSP00000287878.3:p.Ile398Val
ENST00000392801.6:c.1060A>G	ENSP00000376549.2:p.Ile354Val
ENST00000418337.6:c.469A>G	ENSP00000387386.2:p.Ile157Val
ENST00000476632.1:c.469A>G	ENSP00000419493.1:p.Ile157Val
ENST00000478989.5:c.244A>G	ENSP00000420645.1:p.Ile82Val
ENST00000488258.5:c.*432A>G	ENSP00000420783.1:n.*432A>G
ENST00000492843.5:c.820A>G	ENSP00000419577.1:p.Ile274Val
NM_001040633.1:c.1060A>G	NP_001035723.1:p.Ile354Val
NM_001304527.1:c.817A>G	NP_001291456.1:p.Ile273Val
NM_001304531.1:c.469A>G	NP_001291460.1:p.Ile157Val
NM_016203.3:c.1192A>G	NP_057287.2:p.Ile398Val
NM_024429.1:c.469A>G	NP_077747.1:p.Ile157Val
XM_005250002.2:c.1192A>G	XP_005250059.1:p.Ile398Val
XM_005250004.2:c.1060A>G	XP_005250061.1:p.Ile354Val
XM_005250006.3:c.820A>G	XP_005250063.1:p.Ile274Val
XM_006716021.2:c.1180A>G	XP_006716084.1:p.Ile394Val
XM_011516282.1:c.1177A>G	XP_011514584.1:p.Ile393Val
XM_011516283.1:c.1180A>G	XP_011514585.1:p.Ile394Val
XM_011516284.1:c.1177A>G	XP_011514586.1:p.Ile393Val
XM_011516285.1:c.469A>G	XP_011514587.1:p.Ile157Val
XM_011516286.1:c.445A>G	XP_011514588.1:p.Ile149Val
XM_011516287.1:c.409A>G	XP_011514589.1:p.Ile137Val
NM_001363698.1:c.820A>G	NP_001350627.1:p.Ile274Val
XM_005250002.4:c.1192A>G	XP_005250059.1:p.Ile398Val
XM_005250004.4:c.1060A>G	XP_005250061.1:p.Ile354Val
XM_005250006.5:c.820A>G	XP_005250063.1:p.Ile274Val
XM_011516285.2:c.469A>G	XP_011514587.1:p.Ile157Val
XM_011516286.2:c.445A>G	XP_011514588.1:p.Ile149Val
XM_017012268.2:c.1057A>G	XP_016867757.1:p.Ile353Val
XM_017012269.1:c.1189A>G	XP_016867758.1:p.Ile397Val
XM_017012270.1:c.1060A>G	XP_016867759.1:p.Ile354Val
XM_017012271.2:c.1057A>G	XP_016867760.1:p.Ile353Val
XM_017012272.1:c.1057A>G	XP_016867761.1:p.Ile353Val
XM_017012274.2:c.466A>G	XP_016867763.1:p.Ile156Val
XM_017012275.2:c.409A>G	XP_016867764.1:p.Ile137Val
XM_017012276.2:c.466A>G	XP_016867765.1:p.Ile156Val
XM_017012277.2:c.445A>G	XP_016867766.1:p.Ile149Val
XM_017012278.1:c.409A>G	XP_016867767.1:p.Ile137Val
XM_017012279.2:c.409A>G	XP_016867768.1:p.Ile137Val
XM_017012280.2:c.409A>G	XP_016867769.1:p.Ile137Val
XM_017012281.2:c.409A>G	XP_016867770.1:p.Ile137Val
XM_024446786.1:c.1060A>G	XP_024302554.1:p.Ile354Val
XM_024446787.1:c.469A>G	XP_024302555.1:p.Ile157Val
XM_024446788.1:c.466A>G	XP_024302556.1:p.Ile156Val
XM_024446789.1:c.469A>G	XP_024302557.1:p.Ile157Val
NM_016203.4:c.1192A>G MANE Select	NP_057287.2:p.Ile398Val
NM_001040633.2:c.1060A>G	NP_001035723.1:p.Ile354Val
NM_001304527.2:c.817A>G	NP_001291456.1:p.Ile273Val
NM_001304531.2:c.469A>G	NP_001291460.1:p.Ile157Val
NM_001363698.2:c.820A>G	NP_001350627.1:p.Ile274Val
NM_024429.2:c.469A>G	NP_077747.1:p.Ile157Val