Canonical Allele Identifier: CA370070636

Gene: PRKAG2

Linked Data

• COSMIC: COSM6383736 ; COSM6383737
• MyVariant Identifiers: chr7:g.151261261T>G (hg19) ; chr7:g.151564175T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151564175T>G , CM000669.2:g.151564175T>G	GRCh38
NC_000007.13:g.151261261T>G , CM000669.1:g.151261261T>G	GRCh37
NC_000007.12:g.150892194T>G	NCBI36
NG_007486.1:g.318056A>C
NG_007486.2:g.318057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.*223A>C	ENSP00000420645.3:n.*223A>C
ENST00000652321.2:c.1484A>C	ENSP00000498886.2:p.Gln495Pro
ENST00000287878.9:c.1487A>C MANE Select	ENSP00000287878.3:p.Gln496Pro
ENST00000476632.2:c.764A>C	ENSP00000419493.2:p.Gln255Pro
ENST00000492843.6:c.1112A>C	ENSP00000419577.2:p.Gln371Pro
ENST00000650851.1:n.981A>C
ENST00000650858.1:c.704A>C	ENSP00000498384.1:p.Gln235Pro
ENST00000650948.1:n.3873A>C
ENST00000651188.1:c.*600A>C	ENSP00000498557.1:n.*600A>C
ENST00000651303.1:c.*806A>C	ENSP00000498428.1:n.*806A>C
ENST00000651378.1:c.764A>C	ENSP00000499103.1:p.Gln255Pro
ENST00000651764.1:c.1355A>C	ENSP00000498796.1:p.Gln452Pro
ENST00000651836.1:c.1677A>C	ENSP00000499156.1:n.1677A>C
ENST00000651954.1:n.1703A>C
ENST00000652047.1:c.1352A>C	ENSP00000499111.1:p.Gln451Pro
ENST00000652136.1:n.2034A>C
ENST00000652159.1:c.1355A>C	ENSP00000499025.1:p.Gln452Pro
ENST00000652397.1:c.*223A>C	ENSP00000498351.1:n.*223A>C
ENST00000287878.8:c.1487A>C	ENSP00000287878.3:p.Gln496Pro
ENST00000392801.6:c.1355A>C	ENSP00000376549.2:p.Gln452Pro
ENST00000418337.6:c.764A>C	ENSP00000387386.2:p.Gln255Pro
ENST00000479461.1:n.139A>C
ENST00000485183.1:n.140A>C
ENST00000492843.5:c.1115A>C	ENSP00000419577.1:p.Gln372Pro
NM_001040633.1:c.1355A>C	NP_001035723.1:p.Gln452Pro
NM_001304527.1:c.1112A>C	NP_001291456.1:p.Gln371Pro
NM_001304531.1:c.764A>C	NP_001291460.1:p.Gln255Pro
NM_016203.3:c.1487A>C	NP_057287.2:p.Gln496Pro
NM_024429.1:c.764A>C	NP_077747.1:p.Gln255Pro
XM_005250002.2:c.1487A>C	XP_005250059.1:p.Gln496Pro
XM_005250004.2:c.1355A>C	XP_005250061.1:p.Gln452Pro
XM_005250006.3:c.1115A>C	XP_005250063.1:p.Gln372Pro
XM_006716021.2:c.1475A>C	XP_006716084.1:p.Gln492Pro
XM_011516282.1:c.1472A>C	XP_011514584.1:p.Gln491Pro
XM_011516283.1:c.1475A>C	XP_011514585.1:p.Gln492Pro
XM_011516284.1:c.1472A>C	XP_011514586.1:p.Gln491Pro
XM_011516285.1:c.764A>C	XP_011514587.1:p.Gln255Pro
XM_011516286.1:c.740A>C	XP_011514588.1:p.Gln247Pro
XM_011516287.1:c.704A>C	XP_011514589.1:p.Gln235Pro
NM_001363698.1:c.1115A>C	NP_001350627.1:p.Gln372Pro
XM_005250002.4:c.1487A>C	XP_005250059.1:p.Gln496Pro
XM_005250004.4:c.1355A>C	XP_005250061.1:p.Gln452Pro
XM_005250006.5:c.1115A>C	XP_005250063.1:p.Gln372Pro
XM_011516285.2:c.764A>C	XP_011514587.1:p.Gln255Pro
XM_011516286.2:c.740A>C	XP_011514588.1:p.Gln247Pro
XM_017012268.2:c.1352A>C	XP_016867757.1:p.Gln451Pro
XM_017012269.1:c.1484A>C	XP_016867758.1:p.Gln495Pro
XM_017012270.1:c.1355A>C	XP_016867759.1:p.Gln452Pro
XM_017012271.2:c.1352A>C	XP_016867760.1:p.Gln451Pro
XM_017012272.1:c.1352A>C	XP_016867761.1:p.Gln451Pro
XM_017012274.2:c.761A>C	XP_016867763.1:p.Gln254Pro
XM_017012275.2:c.704A>C	XP_016867764.1:p.Gln235Pro
XM_017012276.2:c.761A>C	XP_016867765.1:p.Gln254Pro
XM_017012277.2:c.740A>C	XP_016867766.1:p.Gln247Pro
XM_017012278.1:c.704A>C	XP_016867767.1:p.Gln235Pro
XM_017012279.2:c.704A>C	XP_016867768.1:p.Gln235Pro
XM_017012280.2:c.704A>C	XP_016867769.1:p.Gln235Pro
XM_017012281.2:c.704A>C	XP_016867770.1:p.Gln235Pro
XM_024446786.1:c.1355A>C	XP_024302554.1:p.Gln452Pro
XM_024446787.1:c.764A>C	XP_024302555.1:p.Gln255Pro
XM_024446788.1:c.761A>C	XP_024302556.1:p.Gln254Pro
XM_024446789.1:c.764A>C	XP_024302557.1:p.Gln255Pro
NM_016203.4:c.1487A>C MANE Select	NP_057287.2:p.Gln496Pro
NM_001040633.2:c.1355A>C	NP_001035723.1:p.Gln452Pro
NM_001304527.2:c.1112A>C	NP_001291456.1:p.Gln371Pro
NM_001304531.2:c.764A>C	NP_001291460.1:p.Gln255Pro
NM_001363698.2:c.1115A>C	NP_001350627.1:p.Gln372Pro
NM_024429.2:c.764A>C	NP_077747.1:p.Gln255Pro