Canonical Allele Identifier: CA370070326
Gene: PRKAG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151560574C>A , CM000669.2:g.151560574C>A GRCh38
NC_000007.13:g.151257660C>A , CM000669.1:g.151257660C>A GRCh37
NC_000007.12:g.150888593C>A NCBI36
NG_007486.1:g.321657G>T
NG_007486.2:g.321658G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.*364G>T ENSP00000420645.3:n.*364G>T
ENST00000652321.2:c.1625G>T ENSP00000498886.2:p.Gly542Val
ENST00000287878.9:c.1628G>T MANE Select ENSP00000287878.3:p.Gly543Val
ENST00000476632.2:c.905G>T ENSP00000419493.2:p.Gly302Val
ENST00000492843.6:c.1253G>T ENSP00000419577.2:p.Gly418Val
ENST00000650664.1:n.1343G>T
ENST00000650851.1:n.1122G>T
ENST00000650858.1:c.845G>T ENSP00000498384.1:p.Gly282Val
ENST00000650948.1:n.4014G>T
ENST00000651188.1:c.*741G>T ENSP00000498557.1:n.*741G>T
ENST00000651303.1:c.*947G>T ENSP00000498428.1:n.*947G>T
ENST00000651378.1:c.905G>T ENSP00000499103.1:p.Gly302Val
ENST00000651764.1:c.1496G>T ENSP00000498796.1:p.Gly499Val
ENST00000651836.1:c.1818G>T ENSP00000499156.1:n.1818G>T
ENST00000651954.1:n.1844G>T
ENST00000652047.1:c.1493G>T ENSP00000499111.1:p.Gly498Val
ENST00000652136.1:n.2175G>T
ENST00000652159.1:c.1496G>T ENSP00000499025.1:p.Gly499Val
ENST00000652397.1:c.*364G>T ENSP00000498351.1:n.*364G>T
ENST00000287878.8:c.1628G>T ENSP00000287878.3:p.Gly543Val
ENST00000392801.6:c.1496G>T ENSP00000376549.2:p.Gly499Val
ENST00000418337.6:c.905G>T ENSP00000387386.2:p.Gly302Val
ENST00000479461.1:n.280G>T
ENST00000485183.1:n.281G>T
ENST00000492843.5:c.1256G>T ENSP00000419577.1:p.Gly419Val
NM_001040633.1:c.1496G>T NP_001035723.1:p.Gly499Val
NM_001304527.1:c.1253G>T NP_001291456.1:p.Gly418Val
NM_001304531.1:c.905G>T NP_001291460.1:p.Gly302Val
NM_016203.3:c.1628G>T NP_057287.2:p.Gly543Val
NM_024429.1:c.905G>T NP_077747.1:p.Gly302Val
XM_005250002.2:c.1628G>T XP_005250059.1:p.Gly543Val
XM_005250004.2:c.1496G>T XP_005250061.1:p.Gly499Val
XM_005250006.3:c.1256G>T XP_005250063.1:p.Gly419Val
XM_006716021.2:c.1616G>T XP_006716084.1:p.Gly539Val
XM_011516282.1:c.1613G>T XP_011514584.1:p.Gly538Val
XM_011516283.1:c.1616G>T XP_011514585.1:p.Gly539Val
XM_011516284.1:c.1613G>T XP_011514586.1:p.Gly538Val
XM_011516285.1:c.905G>T XP_011514587.1:p.Gly302Val
XM_011516286.1:c.881G>T XP_011514588.1:p.Gly294Val
XM_011516287.1:c.845G>T XP_011514589.1:p.Gly282Val
NM_001363698.1:c.1256G>T NP_001350627.1:p.Gly419Val
XM_005250002.4:c.1628G>T XP_005250059.1:p.Gly543Val
XM_005250004.4:c.1496G>T XP_005250061.1:p.Gly499Val
XM_005250006.5:c.1256G>T XP_005250063.1:p.Gly419Val
XM_011516285.2:c.905G>T XP_011514587.1:p.Gly302Val
XM_011516286.2:c.881G>T XP_011514588.1:p.Gly294Val
XM_017012268.2:c.1493G>T XP_016867757.1:p.Gly498Val
XM_017012269.1:c.1625G>T XP_016867758.1:p.Gly542Val
XM_017012270.1:c.1496G>T XP_016867759.1:p.Gly499Val
XM_017012271.2:c.1493G>T XP_016867760.1:p.Gly498Val
XM_017012272.1:c.1493G>T XP_016867761.1:p.Gly498Val
XM_017012274.2:c.902G>T XP_016867763.1:p.Gly301Val
XM_017012275.2:c.845G>T XP_016867764.1:p.Gly282Val
XM_017012276.2:c.902G>T XP_016867765.1:p.Gly301Val
XM_017012277.2:c.881G>T XP_016867766.1:p.Gly294Val
XM_017012278.1:c.845G>T XP_016867767.1:p.Gly282Val
XM_017012279.2:c.845G>T XP_016867768.1:p.Gly282Val
XM_017012280.2:c.845G>T XP_016867769.1:p.Gly282Val
XM_017012281.2:c.845G>T XP_016867770.1:p.Gly282Val
XM_024446786.1:c.1496G>T XP_024302554.1:p.Gly499Val
XM_024446787.1:c.905G>T XP_024302555.1:p.Gly302Val
XM_024446788.1:c.902G>T XP_024302556.1:p.Gly301Val
XM_024446789.1:c.905G>T XP_024302557.1:p.Gly302Val
NM_016203.4:c.1628G>T MANE Select NP_057287.2:p.Gly543Val
NM_001040633.2:c.1496G>T NP_001035723.1:p.Gly499Val
NM_001304527.2:c.1253G>T NP_001291456.1:p.Gly418Val
NM_001304531.2:c.905G>T NP_001291460.1:p.Gly302Val
NM_001363698.2:c.1256G>T NP_001350627.1:p.Gly419Val
NM_024429.2:c.905G>T NP_077747.1:p.Gly302Val