Canonical Allele Identifier: CA013633

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 183142
• ClinVar RCV Id: RCV000162026
• dbSNP Id: rs730882148
• MyVariant Identifiers: chr7:g.151265884C>G (hg19) ; chr7:g.151568798C>G (hg38)
• PubMed: PMID:17667862

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151568798C>G , CM000669.2:g.151568798C>G	GRCh38
NC_000007.13:g.151265884C>G , CM000669.1:g.151265884C>G	GRCh37
NC_000007.12:g.150896817C>G	NCBI36
NG_007486.1:g.313433G>C
NG_007486.2:g.313434G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.425G>C	ENSP00000420645.3:p.Arg142Thr
ENST00000652321.2:c.1148G>C	ENSP00000498886.2:p.Arg383Thr
ENST00000287878.9:c.1151G>C MANE Select	ENSP00000287878.3:p.Arg384Thr
ENST00000476632.2:c.428G>C	ENSP00000419493.2:p.Arg143Thr
ENST00000478989.6:c.211G>C
ENST00000492843.6:c.776G>C	ENSP00000419577.2:p.Arg259Thr
ENST00000650851.1:n.645G>C
ENST00000650858.1:c.368G>C	ENSP00000498384.1:p.Arg123Thr
ENST00000650948.1:n.1266G>C
ENST00000651188.1:c.*346+1373G>C	ENSP00000498557.1:n.*346+1373G>C
ENST00000651303.1:c.*470G>C	ENSP00000498428.1:n.*470G>C
ENST00000651378.1:c.428G>C	ENSP00000499103.1:p.Arg143Thr
ENST00000651764.1:c.1019G>C	ENSP00000498796.1:p.Arg340Thr
ENST00000651836.1:c.919G>C	ENSP00000499156.1:n.919G>C
ENST00000652047.1:c.1016G>C	ENSP00000499111.1:p.Arg339Thr
ENST00000652136.1:n.884G>C
ENST00000652159.1:c.1019G>C	ENSP00000499025.1:p.Arg340Thr
ENST00000652397.1:c.428G>C	ENSP00000498351.1:p.Arg143Thr
ENST00000287878.8:c.1151G>C	ENSP00000287878.3:p.Arg384Thr
ENST00000392801.6:c.1019G>C	ENSP00000376549.2:p.Arg340Thr
ENST00000418337.6:c.428G>C	ENSP00000387386.2:p.Arg143Thr
ENST00000476632.1:c.428G>C	ENSP00000419493.1:p.Arg143Thr
ENST00000478989.5:c.203G>C	ENSP00000420645.1:p.Arg68Thr
ENST00000488258.5:c.*391G>C	ENSP00000420783.1:n.*391G>C
ENST00000492843.5:c.779G>C	ENSP00000419577.1:p.Arg260Thr
NM_001040633.1:c.1019G>C	NP_001035723.1:p.Arg340Thr
NM_001304527.1:c.776G>C	NP_001291456.1:p.Arg259Thr
NM_001304531.1:c.428G>C	NP_001291460.1:p.Arg143Thr
NM_016203.3:c.1151G>C	NP_057287.2:p.Arg384Thr
NM_024429.1:c.428G>C	NP_077747.1:p.Arg143Thr
XM_005250002.2:c.1151G>C	XP_005250059.1:p.Arg384Thr
XM_005250004.2:c.1019G>C	XP_005250061.1:p.Arg340Thr
XM_005250006.3:c.779G>C	XP_005250063.1:p.Arg260Thr
XM_006716021.2:c.1139G>C	XP_006716084.1:p.Arg380Thr
XM_011516282.1:c.1136G>C	XP_011514584.1:p.Arg379Thr
XM_011516283.1:c.1139G>C	XP_011514585.1:p.Arg380Thr
XM_011516284.1:c.1136G>C	XP_011514586.1:p.Arg379Thr
XM_011516285.1:c.428G>C	XP_011514587.1:p.Arg143Thr
XM_011516286.1:c.404G>C	XP_011514588.1:p.Arg135Thr
XM_011516287.1:c.368G>C	XP_011514589.1:p.Arg123Thr
NM_001363698.1:c.779G>C	NP_001350627.1:p.Arg260Thr
XM_005250002.4:c.1151G>C	XP_005250059.1:p.Arg384Thr
XM_005250004.4:c.1019G>C	XP_005250061.1:p.Arg340Thr
XM_005250006.5:c.779G>C	XP_005250063.1:p.Arg260Thr
XM_011516285.2:c.428G>C	XP_011514587.1:p.Arg143Thr
XM_011516286.2:c.404G>C	XP_011514588.1:p.Arg135Thr
XM_017012268.2:c.1016G>C	XP_016867757.1:p.Arg339Thr
XM_017012269.1:c.1148G>C	XP_016867758.1:p.Arg383Thr
XM_017012270.1:c.1019G>C	XP_016867759.1:p.Arg340Thr
XM_017012271.2:c.1016G>C	XP_016867760.1:p.Arg339Thr
XM_017012272.1:c.1016G>C	XP_016867761.1:p.Arg339Thr
XM_017012274.2:c.425G>C	XP_016867763.1:p.Arg142Thr
XM_017012275.2:c.368G>C	XP_016867764.1:p.Arg123Thr
XM_017012276.2:c.425G>C	XP_016867765.1:p.Arg142Thr
XM_017012277.2:c.404G>C	XP_016867766.1:p.Arg135Thr
XM_017012278.1:c.368G>C	XP_016867767.1:p.Arg123Thr
XM_017012279.2:c.368G>C	XP_016867768.1:p.Arg123Thr
XM_017012280.2:c.368G>C	XP_016867769.1:p.Arg123Thr
XM_017012281.2:c.368G>C	XP_016867770.1:p.Arg123Thr
XM_024446786.1:c.1019G>C	XP_024302554.1:p.Arg340Thr
XM_024446787.1:c.428G>C	XP_024302555.1:p.Arg143Thr
XM_024446788.1:c.425G>C	XP_024302556.1:p.Arg142Thr
XM_024446789.1:c.428G>C	XP_024302557.1:p.Arg143Thr
NM_016203.4:c.1151G>C MANE Select	NP_057287.2:p.Arg384Thr
NM_001040633.2:c.1019G>C	NP_001035723.1:p.Arg340Thr
NM_001304527.2:c.776G>C	NP_001291456.1:p.Arg259Thr
NM_001304531.2:c.428G>C	NP_001291460.1:p.Arg143Thr
NM_001363698.2:c.779G>C	NP_001350627.1:p.Arg260Thr
NM_024429.2:c.428G>C	NP_077747.1:p.Arg143Thr