Canonical Allele Identifier: CA1752725514
Gene: PRKAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151568750G= , CM000669.2:g.151568750G= GRCh38
NC_000007.13:g.151265836G= , CM000669.1:g.151265836G= GRCh37
NC_000007.12:g.150896769G= NCBI36
NG_007486.1:g.313481C=
NG_007486.2:g.313482C=

Transcript Alleles

HGVS Amino-acid Change
NM_016203.4:c.1199C= MANE Select NP_057287.2:p.Thr400=
ENST00000287878.9:c.1199C= MANE Select ENSP00000287878.3:p.Thr400=
NM_001040633.1:c.1067C= NP_001035723.1:p.Thr356=
NM_001040633.2:c.1067C= NP_001035723.1:p.Thr356=
NM_001304527.1:c.824C= NP_001291456.1:p.Thr275=
NM_001304527.2:c.824C= NP_001291456.1:p.Thr275=
NM_001304531.1:c.476C= NP_001291460.1:p.Thr159=
NM_001304531.2:c.476C= NP_001291460.1:p.Thr159=
NM_001363698.1:c.827C= NP_001350627.1:p.Thr276=
NM_001363698.2:c.827C= NP_001350627.1:p.Thr276=
NM_016203.3:c.1199C= NP_057287.2:p.Thr400=
NM_024429.1:c.476C= NP_077747.1:p.Thr159=
NM_024429.2:c.476C= NP_077747.1:p.Thr159=
ENST00000287878.8:c.1199C= ENSP00000287878.3:p.Thr400=
ENST00000392801.6:c.1067C= ENSP00000376549.2:p.Thr356=
ENST00000418337.6:c.476C= ENSP00000387386.2:p.Thr159=
ENST00000476632.1:c.476C= ENSP00000419493.1:p.Thr159=
ENST00000476632.2:c.476C= ENSP00000419493.2:p.Thr159=
ENST00000478989.5:c.251C= ENSP00000420645.1:p.Thr84=
ENST00000478989.6:c.259C=
ENST00000478989.7:c.473C= ENSP00000420645.3:p.Thr158=
ENST00000488258.5:c.*439C= ENSP00000420783.1:n.*439C=
ENST00000492843.5:c.827C= ENSP00000419577.1:p.Thr276=
ENST00000492843.6:c.824C= ENSP00000419577.2:p.Thr275=
ENST00000650851.1:n.693C=
ENST00000650858.1:c.416C= ENSP00000498384.1:p.Thr139=
ENST00000650948.1:n.1314C=
ENST00000651188.1:c.*346+1421C= ENSP00000498557.1:n.*346+1421C=
ENST00000651303.1:c.*518C= ENSP00000498428.1:n.*518C=
ENST00000651378.1:c.476C= ENSP00000499103.1:p.Thr159=
ENST00000651764.1:c.1067C= ENSP00000498796.1:p.Thr356=
ENST00000651836.1:c.967C= ENSP00000499156.1:n.967C=
ENST00000652047.1:c.1064C= ENSP00000499111.1:p.Thr355=
ENST00000652136.1:n.932C=
ENST00000652159.1:c.1067C= ENSP00000499025.1:p.Thr356=
ENST00000652321.2:c.1196C= ENSP00000498886.2:p.Thr399=
ENST00000652397.1:c.476C= ENSP00000498351.1:p.Thr159=
XM_005250002.2:c.1199C= XP_005250059.1:p.Thr400=
XM_005250002.4:c.1199C= XP_005250059.1:p.Thr400=
XM_005250004.2:c.1067C= XP_005250061.1:p.Thr356=
XM_005250004.4:c.1067C= XP_005250061.1:p.Thr356=
XM_005250006.3:c.827C= XP_005250063.1:p.Thr276=
XM_005250006.5:c.827C= XP_005250063.1:p.Thr276=
XM_006716021.2:c.1187C= XP_006716084.1:p.Thr396=
XM_011516282.1:c.1184C= XP_011514584.1:p.Thr395=
XM_011516283.1:c.1187C= XP_011514585.1:p.Thr396=
XM_011516284.1:c.1184C= XP_011514586.1:p.Thr395=
XM_011516285.1:c.476C= XP_011514587.1:p.Thr159=
XM_011516285.2:c.476C= XP_011514587.1:p.Thr159=
XM_011516286.1:c.452C= XP_011514588.1:p.Thr151=
XM_011516286.2:c.452C= XP_011514588.1:p.Thr151=
XM_011516287.1:c.416C= XP_011514589.1:p.Thr139=
XM_017012268.2:c.1064C= XP_016867757.1:p.Thr355=
XM_017012269.1:c.1196C= XP_016867758.1:p.Thr399=
XM_017012270.1:c.1067C= XP_016867759.1:p.Thr356=
XM_017012271.2:c.1064C= XP_016867760.1:p.Thr355=
XM_017012272.1:c.1064C= XP_016867761.1:p.Thr355=
XM_017012274.2:c.473C= XP_016867763.1:p.Thr158=
XM_017012275.2:c.416C= XP_016867764.1:p.Thr139=
XM_017012276.2:c.473C= XP_016867765.1:p.Thr158=
XM_017012277.2:c.452C= XP_016867766.1:p.Thr151=
XM_017012278.1:c.416C= XP_016867767.1:p.Thr139=
XM_017012279.2:c.416C= XP_016867768.1:p.Thr139=
XM_017012280.2:c.416C= XP_016867769.1:p.Thr139=
XM_017012281.2:c.416C= XP_016867770.1:p.Thr139=
XM_024446786.1:c.1067C= XP_024302554.1:p.Thr356=
XM_024446787.1:c.476C= XP_024302555.1:p.Thr159=
XM_024446788.1:c.473C= XP_024302556.1:p.Thr158=
XM_024446789.1:c.476C= XP_024302557.1:p.Thr159=