Canonical Allele Identifier: CA370070445

Gene: PRKAG2

Linked Data

• MyVariant Identifiers: chr7:g.151261174A>G (hg19) ; chr7:g.151564088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151564088A>G , CM000669.2:g.151564088A>G	GRCh38
NC_000007.13:g.151261174A>G , CM000669.1:g.151261174A>G	GRCh37
NC_000007.12:g.150892107A>G	NCBI36
NG_007486.1:g.318143T>C
NG_007486.2:g.318144T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*310T>C	ENSP00000420645.3:n.*310T>C
ENST00000652321.2:c.1571T>C	ENSP00000498886.2:p.Val524Ala
ENST00000287878.9:c.1574T>C MANE Select	ENSP00000287878.3:p.Val525Ala
ENST00000476632.2:c.851T>C	ENSP00000419493.2:p.Val284Ala
ENST00000492843.6:c.1199T>C	ENSP00000419577.2:p.Val400Ala
ENST00000650851.1:n.1068T>C
ENST00000650858.1:c.791T>C	ENSP00000498384.1:p.Val264Ala
ENST00000650948.1:n.3960T>C
ENST00000651188.1:c.*687T>C	ENSP00000498557.1:n.*687T>C
ENST00000651303.1:c.*893T>C	ENSP00000498428.1:n.*893T>C
ENST00000651378.1:c.851T>C	ENSP00000499103.1:p.Val284Ala
ENST00000651764.1:c.1442T>C	ENSP00000498796.1:p.Val481Ala
ENST00000651836.1:c.1764T>C	ENSP00000499156.1:n.1764T>C
ENST00000651954.1:n.1790T>C
ENST00000652047.1:c.1439T>C	ENSP00000499111.1:p.Val480Ala
ENST00000652136.1:n.2121T>C
ENST00000652159.1:c.1442T>C	ENSP00000499025.1:p.Val481Ala
ENST00000652397.1:c.*310T>C	ENSP00000498351.1:n.*310T>C
ENST00000287878.8:c.1574T>C	ENSP00000287878.3:p.Val525Ala
ENST00000392801.6:c.1442T>C	ENSP00000376549.2:p.Val481Ala
ENST00000418337.6:c.851T>C	ENSP00000387386.2:p.Val284Ala
ENST00000479461.1:n.226T>C
ENST00000485183.1:n.227T>C
ENST00000492843.5:c.1202T>C	ENSP00000419577.1:p.Val401Ala
NM_001040633.1:c.1442T>C	NP_001035723.1:p.Val481Ala
NM_001304527.1:c.1199T>C	NP_001291456.1:p.Val400Ala
NM_001304531.1:c.851T>C	NP_001291460.1:p.Val284Ala
NM_016203.3:c.1574T>C	NP_057287.2:p.Val525Ala
NM_024429.1:c.851T>C	NP_077747.1:p.Val284Ala
XM_005250002.2:c.1574T>C	XP_005250059.1:p.Val525Ala
XM_005250004.2:c.1442T>C	XP_005250061.1:p.Val481Ala
XM_005250006.3:c.1202T>C	XP_005250063.1:p.Val401Ala
XM_006716021.2:c.1562T>C	XP_006716084.1:p.Val521Ala
XM_011516282.1:c.1559T>C	XP_011514584.1:p.Val520Ala
XM_011516283.1:c.1562T>C	XP_011514585.1:p.Val521Ala
XM_011516284.1:c.1559T>C	XP_011514586.1:p.Val520Ala
XM_011516285.1:c.851T>C	XP_011514587.1:p.Val284Ala
XM_011516286.1:c.827T>C	XP_011514588.1:p.Val276Ala
XM_011516287.1:c.791T>C	XP_011514589.1:p.Val264Ala
NM_001363698.1:c.1202T>C	NP_001350627.1:p.Val401Ala
XM_005250002.4:c.1574T>C	XP_005250059.1:p.Val525Ala
XM_005250004.4:c.1442T>C	XP_005250061.1:p.Val481Ala
XM_005250006.5:c.1202T>C	XP_005250063.1:p.Val401Ala
XM_011516285.2:c.851T>C	XP_011514587.1:p.Val284Ala
XM_011516286.2:c.827T>C	XP_011514588.1:p.Val276Ala
XM_017012268.2:c.1439T>C	XP_016867757.1:p.Val480Ala
XM_017012269.1:c.1571T>C	XP_016867758.1:p.Val524Ala
XM_017012270.1:c.1442T>C	XP_016867759.1:p.Val481Ala
XM_017012271.2:c.1439T>C	XP_016867760.1:p.Val480Ala
XM_017012272.1:c.1439T>C	XP_016867761.1:p.Val480Ala
XM_017012274.2:c.848T>C	XP_016867763.1:p.Val283Ala
XM_017012275.2:c.791T>C	XP_016867764.1:p.Val264Ala
XM_017012276.2:c.848T>C	XP_016867765.1:p.Val283Ala
XM_017012277.2:c.827T>C	XP_016867766.1:p.Val276Ala
XM_017012278.1:c.791T>C	XP_016867767.1:p.Val264Ala
XM_017012279.2:c.791T>C	XP_016867768.1:p.Val264Ala
XM_017012280.2:c.791T>C	XP_016867769.1:p.Val264Ala
XM_017012281.2:c.791T>C	XP_016867770.1:p.Val264Ala
XM_024446786.1:c.1442T>C	XP_024302554.1:p.Val481Ala
XM_024446787.1:c.851T>C	XP_024302555.1:p.Val284Ala
XM_024446788.1:c.848T>C	XP_024302556.1:p.Val283Ala
XM_024446789.1:c.851T>C	XP_024302557.1:p.Val284Ala
NM_016203.4:c.1574T>C MANE Select	NP_057287.2:p.Val525Ala
NM_001040633.2:c.1442T>C	NP_001035723.1:p.Val481Ala
NM_001304527.2:c.1199T>C	NP_001291456.1:p.Val400Ala
NM_001304531.2:c.851T>C	NP_001291460.1:p.Val284Ala
NM_001363698.2:c.1202T>C	NP_001350627.1:p.Val401Ala
NM_024429.2:c.851T>C	NP_077747.1:p.Val284Ala