Canonical Allele Identifier: CA2685701485

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151632127-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151632128del , CM000669.2:g.151632128del	GRCh38
NC_000007.13:g.151329214del , CM000669.1:g.151329214del	GRCh37
NC_000007.12:g.150960147del	NCBI36
NG_007486.1:g.250103del
NG_007486.2:g.250104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.-29del	ENSP00000420645.3:n.-29del
ENST00000652321.2:c.695del	ENSP00000498886.2:p.Ala232GlyfsTer21
ENST00000287878.9:c.695del MANE Select	ENSP00000287878.3:p.Ala232GlyfsTer22
ENST00000476632.2:c.-29del	ENSP00000419493.2:n.-29del
ENST00000491938.6:n.41del
ENST00000492843.6:c.323del	ENSP00000419577.2:p.Ala108GlyfsTer21
ENST00000650858.1:c.-29-36674del	ENSP00000498384.1:n.-29-36674del
ENST00000650948.1:n.810del
ENST00000651188.1:c.553-36677del	ENSP00000498557.1:n.553-36677del
ENST00000651303.1:c.563del	ENSP00000498428.1:p.Ala188GlyfsTer?
ENST00000651378.1:c.-29del	ENSP00000499103.1:n.-29del
ENST00000651764.1:c.563del	ENSP00000498796.1:p.Ala188GlyfsTer22
ENST00000651836.1:c.466del	ENSP00000499156.1:n.466del
ENST00000652047.1:c.563del	ENSP00000499111.1:p.Ala188GlyfsTer21
ENST00000652136.1:n.431del
ENST00000652159.1:c.563del	ENSP00000499025.1:p.Ala188GlyfsTer22
ENST00000652321.1:c.695del	ENSP00000498886.1:p.Ala232GlyfsTer21
ENST00000652397.1:c.-29del	ENSP00000498351.1:n.-29del
ENST00000652572.1:n.76del
ENST00000652707.1:c.563del	ENSP00000498954.1:p.Ala188GlyfsTer22
ENST00000287878.8:c.695del	ENSP00000287878.3:p.Ala232GlyfsTer22
ENST00000392801.6:c.563del	ENSP00000376549.2:p.Ala188GlyfsTer22
ENST00000418337.6:c.-29del	ENSP00000387386.2:n.-29del
ENST00000476632.1:c.-29del	ENSP00000419493.1:n.-29del
ENST00000483775.1:n.100del
ENST00000488258.5:c.685-36674del	ENSP00000420783.1:n.685-36674del
ENST00000491938.5:n.41del
ENST00000492843.5:c.323del	ENSP00000419577.1:p.Ala108GlyfsTer22
ENST00000493872.5:c.-29del	ENSP00000417252.1:n.-29del
NM_001040633.1:c.563del	NP_001035723.1:p.Ala188GlyfsTer22
NM_001304527.1:c.323del	NP_001291456.1:p.Ala108GlyfsTer21
NM_001304531.1:c.-29del	NP_001291460.1:n.-29del
NM_016203.3:c.695del	NP_057287.2:p.Ala232GlyfsTer22
NM_024429.1:c.-29del	NP_077747.1:n.-29del
XM_005250002.2:c.695del	XP_005250059.1:p.Ala232GlyfsTer22
XM_005250004.2:c.563del	XP_005250061.1:p.Ala188GlyfsTer22
XM_005250006.3:c.323del	XP_005250063.1:p.Ala108GlyfsTer22
XM_006716021.2:c.683del	XP_006716084.1:p.Ala228GlyfsTer22
XM_011516282.1:c.683del	XP_011514584.1:p.Ala228GlyfsTer21
XM_011516283.1:c.683del	XP_011514585.1:p.Ala228GlyfsTer22
XM_011516284.1:c.683del	XP_011514586.1:p.Ala228GlyfsTer21
XM_011516285.1:c.-29del	XP_011514587.1:n.-29del
XM_011516287.1:c.-29-36674del	XP_011514589.1:n.-29-36674del
NM_001363698.1:c.323del	NP_001350627.1:p.Ala108GlyfsTer22
XM_005250002.4:c.695del	XP_005250059.1:p.Ala232GlyfsTer22
XM_005250004.4:c.563del	XP_005250061.1:p.Ala188GlyfsTer22
XM_005250006.5:c.323del	XP_005250063.1:p.Ala108GlyfsTer22
XM_011516285.2:c.-29del	XP_011514587.1:n.-29del
XM_017012268.2:c.563del	XP_016867757.1:p.Ala188GlyfsTer21
XM_017012269.1:c.695del	XP_016867758.1:p.Ala232GlyfsTer21
XM_017012270.1:c.563del	XP_016867759.1:p.Ala188GlyfsTer22
XM_017012271.2:c.563del	XP_016867760.1:p.Ala188GlyfsTer21
XM_017012272.1:c.563del	XP_016867761.1:p.Ala188GlyfsTer21
XM_017012274.2:c.-29del	XP_016867763.1:n.-29del
XM_017012275.2:c.-26-36677del	XP_016867764.1:n.-26-36677del
XM_017012276.2:c.-29del	XP_016867765.1:n.-29del
XM_017012278.1:c.-29-36674del	XP_016867767.1:n.-29-36674del
XM_017012279.2:c.-29-36674del	XP_016867768.1:n.-29-36674del
XM_017012280.2:c.-26-36677del	XP_016867769.1:n.-26-36677del
XM_017012281.2:c.-26-36677del	XP_016867770.1:n.-26-36677del
XM_024446786.1:c.563del	XP_024302554.1:p.Ala188GlyfsTer22
XM_024446787.1:c.-29del	XP_024302555.1:n.-29del
XM_024446788.1:c.-29del	XP_024302556.1:n.-29del
XM_024446789.1:c.-29del	XP_024302557.1:n.-29del
NM_016203.4:c.695del MANE Select	NP_057287.2:p.Ala232GlyfsTer22
NM_001040633.2:c.563del	NP_001035723.1:p.Ala188GlyfsTer22
NM_001304527.2:c.323del	NP_001291456.1:p.Ala108GlyfsTer21
NM_001304531.2:c.-29del	NP_001291460.1:n.-29del
NM_001363698.2:c.323del	NP_001350627.1:p.Ala108GlyfsTer22
NM_024429.2:c.-29del	NP_077747.1:n.-29del