Canonical Allele Identifier: CA458669042
Gene: PRKAG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.151265877G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151568791G>T , CM000669.2:g.151568791G>T GRCh38
NC_000007.13:g.151265877G>T , CM000669.1:g.151265877G>T GRCh37
NC_000007.12:g.150896810G>T NCBI36
NG_007486.1:g.313440C>A
NG_007486.2:g.313441C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.432C>A ENSP00000420645.3:p.Pro144=
ENST00000652321.2:c.1155C>A ENSP00000498886.2:p.Pro385=
ENST00000287878.9:c.1158C>A MANE Select ENSP00000287878.3:p.Pro386=
ENST00000476632.2:c.435C>A ENSP00000419493.2:p.Pro145=
ENST00000478989.6:c.218C>A
ENST00000492843.6:c.783C>A ENSP00000419577.2:p.Pro261=
ENST00000650851.1:n.652C>A
ENST00000650858.1:c.375C>A ENSP00000498384.1:p.Pro125=
ENST00000650948.1:n.1273C>A
ENST00000651188.1:c.*346+1380C>A ENSP00000498557.1:n.*346+1380C>A
ENST00000651303.1:c.*477C>A ENSP00000498428.1:n.*477C>A
ENST00000651378.1:c.435C>A ENSP00000499103.1:p.Pro145=
ENST00000651764.1:c.1026C>A ENSP00000498796.1:p.Pro342=
ENST00000651836.1:c.926C>A ENSP00000499156.1:n.926C>A
ENST00000652047.1:c.1023C>A ENSP00000499111.1:p.Pro341=
ENST00000652136.1:n.891C>A
ENST00000652159.1:c.1026C>A ENSP00000499025.1:p.Pro342=
ENST00000652397.1:c.435C>A ENSP00000498351.1:p.Pro145=
ENST00000287878.8:c.1158C>A ENSP00000287878.3:p.Pro386=
ENST00000392801.6:c.1026C>A ENSP00000376549.2:p.Pro342=
ENST00000418337.6:c.435C>A ENSP00000387386.2:p.Pro145=
ENST00000476632.1:c.435C>A ENSP00000419493.1:p.Pro145=
ENST00000478989.5:c.210C>A ENSP00000420645.1:p.Pro70=
ENST00000488258.5:c.*398C>A ENSP00000420783.1:n.*398C>A
ENST00000492843.5:c.786C>A ENSP00000419577.1:p.Pro262=
NM_001040633.1:c.1026C>A NP_001035723.1:p.Pro342=
NM_001304527.1:c.783C>A NP_001291456.1:p.Pro261=
NM_001304531.1:c.435C>A NP_001291460.1:p.Pro145=
NM_016203.3:c.1158C>A NP_057287.2:p.Pro386=
NM_024429.1:c.435C>A NP_077747.1:p.Pro145=
XM_005250002.2:c.1158C>A XP_005250059.1:p.Pro386=
XM_005250004.2:c.1026C>A XP_005250061.1:p.Pro342=
XM_005250006.3:c.786C>A XP_005250063.1:p.Pro262=
XM_006716021.2:c.1146C>A XP_006716084.1:p.Pro382=
XM_011516282.1:c.1143C>A XP_011514584.1:p.Pro381=
XM_011516283.1:c.1146C>A XP_011514585.1:p.Pro382=
XM_011516284.1:c.1143C>A XP_011514586.1:p.Pro381=
XM_011516285.1:c.435C>A XP_011514587.1:p.Pro145=
XM_011516286.1:c.411C>A XP_011514588.1:p.Pro137=
XM_011516287.1:c.375C>A XP_011514589.1:p.Pro125=
NM_001363698.1:c.786C>A NP_001350627.1:p.Pro262=
XM_005250002.4:c.1158C>A XP_005250059.1:p.Pro386=
XM_005250004.4:c.1026C>A XP_005250061.1:p.Pro342=
XM_005250006.5:c.786C>A XP_005250063.1:p.Pro262=
XM_011516285.2:c.435C>A XP_011514587.1:p.Pro145=
XM_011516286.2:c.411C>A XP_011514588.1:p.Pro137=
XM_017012268.2:c.1023C>A XP_016867757.1:p.Pro341=
XM_017012269.1:c.1155C>A XP_016867758.1:p.Pro385=
XM_017012270.1:c.1026C>A XP_016867759.1:p.Pro342=
XM_017012271.2:c.1023C>A XP_016867760.1:p.Pro341=
XM_017012272.1:c.1023C>A XP_016867761.1:p.Pro341=
XM_017012274.2:c.432C>A XP_016867763.1:p.Pro144=
XM_017012275.2:c.375C>A XP_016867764.1:p.Pro125=
XM_017012276.2:c.432C>A XP_016867765.1:p.Pro144=
XM_017012277.2:c.411C>A XP_016867766.1:p.Pro137=
XM_017012278.1:c.375C>A XP_016867767.1:p.Pro125=
XM_017012279.2:c.375C>A XP_016867768.1:p.Pro125=
XM_017012280.2:c.375C>A XP_016867769.1:p.Pro125=
XM_017012281.2:c.375C>A XP_016867770.1:p.Pro125=
XM_024446786.1:c.1026C>A XP_024302554.1:p.Pro342=
XM_024446787.1:c.435C>A XP_024302555.1:p.Pro145=
XM_024446788.1:c.432C>A XP_024302556.1:p.Pro144=
XM_024446789.1:c.435C>A XP_024302557.1:p.Pro145=
NM_016203.4:c.1158C>A MANE Select NP_057287.2:p.Pro386=
NM_001040633.2:c.1026C>A NP_001035723.1:p.Pro342=
NM_001304527.2:c.783C>A NP_001291456.1:p.Pro261=
NM_001304531.2:c.435C>A NP_001291460.1:p.Pro145=
NM_001363698.2:c.786C>A NP_001350627.1:p.Pro262=
NM_024429.2:c.435C>A NP_077747.1:p.Pro145=