Canonical Allele Identifier: CA013609
Gene: PRKAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6847
ClinVar RCV Id: RCV000007250 RCV000603714 RCV001753407
dbSNP Id: rs121908988
MyVariant Identifiers: chr7:g.151265887T>C (hg19) chr7:g.151568801T>C (hg38)
PubMed: PMID:11371514 PMID:14722619
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151568801T>C , CM000669.2:g.151568801T>C GRCh38
NC_000007.13:g.151265887T>C , CM000669.1:g.151265887T>C GRCh37
NC_000007.12:g.150896820T>C NCBI36
NG_007486.1:g.313430A>G
NG_007486.2:g.313431A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000478989.7:c.422A>G ENSP00000420645.3:p.His141Arg
ENST00000652321.2:c.1145A>G ENSP00000498886.2:p.His382Arg
ENST00000287878.9:c.1148A>G MANE Select ENSP00000287878.3:p.His383Arg
ENST00000476632.2:c.425A>G ENSP00000419493.2:p.His142Arg
ENST00000478989.6:c.208A>G
ENST00000492843.6:c.773A>G ENSP00000419577.2:p.His258Arg
ENST00000650851.1:n.642A>G
ENST00000650858.1:c.365A>G ENSP00000498384.1:p.His122Arg
ENST00000650948.1:n.1263A>G
ENST00000651188.1:c.*346+1370A>G ENSP00000498557.1:n.*346+1370A>G
ENST00000651303.1:c.*467A>G ENSP00000498428.1:n.*467A>G
ENST00000651378.1:c.425A>G ENSP00000499103.1:p.His142Arg
ENST00000651764.1:c.1016A>G ENSP00000498796.1:p.His339Arg
ENST00000651836.1:c.916A>G ENSP00000499156.1:n.916A>G
ENST00000652047.1:c.1013A>G ENSP00000499111.1:p.His338Arg
ENST00000652136.1:n.881A>G
ENST00000652159.1:c.1016A>G ENSP00000499025.1:p.His339Arg
ENST00000652397.1:c.425A>G ENSP00000498351.1:p.His142Arg
ENST00000287878.8:c.1148A>G ENSP00000287878.3:p.His383Arg
ENST00000392801.6:c.1016A>G ENSP00000376549.2:p.His339Arg
ENST00000418337.6:c.425A>G ENSP00000387386.2:p.His142Arg
ENST00000476632.1:c.425A>G ENSP00000419493.1:p.His142Arg
ENST00000478989.5:c.200A>G ENSP00000420645.1:p.His67Arg
ENST00000488258.5:c.*388A>G ENSP00000420783.1:n.*388A>G
ENST00000492843.5:c.776A>G ENSP00000419577.1:p.His259Arg
NM_001040633.1:c.1016A>G NP_001035723.1:p.His339Arg
NM_001304527.1:c.773A>G NP_001291456.1:p.His258Arg
NM_001304531.1:c.425A>G NP_001291460.1:p.His142Arg
NM_016203.3:c.1148A>G NP_057287.2:p.His383Arg
NM_024429.1:c.425A>G NP_077747.1:p.His142Arg
XM_005250002.2:c.1148A>G XP_005250059.1:p.His383Arg
XM_005250004.2:c.1016A>G XP_005250061.1:p.His339Arg
XM_005250006.3:c.776A>G XP_005250063.1:p.His259Arg
XM_006716021.2:c.1136A>G XP_006716084.1:p.His379Arg
XM_011516282.1:c.1133A>G XP_011514584.1:p.His378Arg
XM_011516283.1:c.1136A>G XP_011514585.1:p.His379Arg
XM_011516284.1:c.1133A>G XP_011514586.1:p.His378Arg
XM_011516285.1:c.425A>G XP_011514587.1:p.His142Arg
XM_011516286.1:c.401A>G XP_011514588.1:p.His134Arg
XM_011516287.1:c.365A>G XP_011514589.1:p.His122Arg
NM_001363698.1:c.776A>G NP_001350627.1:p.His259Arg
XM_005250002.4:c.1148A>G XP_005250059.1:p.His383Arg
XM_005250004.4:c.1016A>G XP_005250061.1:p.His339Arg
XM_005250006.5:c.776A>G XP_005250063.1:p.His259Arg
XM_011516285.2:c.425A>G XP_011514587.1:p.His142Arg
XM_011516286.2:c.401A>G XP_011514588.1:p.His134Arg
XM_017012268.2:c.1013A>G XP_016867757.1:p.His338Arg
XM_017012269.1:c.1145A>G XP_016867758.1:p.His382Arg
XM_017012270.1:c.1016A>G XP_016867759.1:p.His339Arg
XM_017012271.2:c.1013A>G XP_016867760.1:p.His338Arg
XM_017012272.1:c.1013A>G XP_016867761.1:p.His338Arg
XM_017012274.2:c.422A>G XP_016867763.1:p.His141Arg
XM_017012275.2:c.365A>G XP_016867764.1:p.His122Arg
XM_017012276.2:c.422A>G XP_016867765.1:p.His141Arg
XM_017012277.2:c.401A>G XP_016867766.1:p.His134Arg
XM_017012278.1:c.365A>G XP_016867767.1:p.His122Arg
XM_017012279.2:c.365A>G XP_016867768.1:p.His122Arg
XM_017012280.2:c.365A>G XP_016867769.1:p.His122Arg
XM_017012281.2:c.365A>G XP_016867770.1:p.His122Arg
XM_024446786.1:c.1016A>G XP_024302554.1:p.His339Arg
XM_024446787.1:c.425A>G XP_024302555.1:p.His142Arg
XM_024446788.1:c.422A>G XP_024302556.1:p.His141Arg
XM_024446789.1:c.425A>G XP_024302557.1:p.His142Arg
NM_016203.4:c.1148A>G MANE Select NP_057287.2:p.His383Arg
NM_001040633.2:c.1016A>G NP_001035723.1:p.His339Arg
NM_001304527.2:c.773A>G NP_001291456.1:p.His258Arg
NM_001304531.2:c.425A>G NP_001291460.1:p.His142Arg
NM_001363698.2:c.776A>G NP_001350627.1:p.His259Arg
NM_024429.2:c.425A>G NP_077747.1:p.His142Arg
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