Canonical Allele Identifier: CA058079

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 750283
• ClinVar RCV Id: RCV001495340 ; RCV002372578
• dbSNP Id: rs756008063
• ExAC: 7:151329219 C / A
• gnomAD v2: 7-151329219-C-A
• gnomAD v4: 7-151632133-C-A
• MyVariant Identifiers: chr7:g.151329219C>A (hg19) ; chr7:g.151632133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151632133C>A , CM000669.2:g.151632133C>A	GRCh38
NC_000007.13:g.151329219C>A , CM000669.1:g.151329219C>A	GRCh37
NC_000007.12:g.150960152C>A	NCBI36
NG_007486.1:g.250098G>T
NG_007486.2:g.250099G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.-34G>T	ENSP00000420645.3:n.-34G>T
ENST00000652321.2:c.690G>T	ENSP00000498886.2:p.Ala230=
ENST00000287878.9:c.690G>T MANE Select	ENSP00000287878.3:p.Ala230=
ENST00000476632.2:c.-34G>T	ENSP00000419493.2:n.-34G>T
ENST00000487375.2:n.567G>T
ENST00000491938.6:n.36G>T
ENST00000492843.6:c.318G>T	ENSP00000419577.2:p.Ala106=
ENST00000650858.1:c.-29-36679G>T	ENSP00000498384.1:n.-29-36679G>T
ENST00000650948.1:n.805G>T
ENST00000651188.1:c.553-36682G>T	ENSP00000498557.1:n.553-36682G>T
ENST00000651303.1:c.558G>T	ENSP00000498428.1:p.Ala186=
ENST00000651378.1:c.-34G>T	ENSP00000499103.1:n.-34G>T
ENST00000651764.1:c.558G>T	ENSP00000498796.1:p.Ala186=
ENST00000651836.1:c.461G>T	ENSP00000499156.1:n.461G>T
ENST00000652047.1:c.558G>T	ENSP00000499111.1:p.Ala186=
ENST00000652136.1:n.426G>T
ENST00000652159.1:c.558G>T	ENSP00000499025.1:p.Ala186=
ENST00000652321.1:c.690G>T	ENSP00000498886.1:p.Ala230=
ENST00000652397.1:c.-34G>T	ENSP00000498351.1:n.-34G>T
ENST00000652572.1:n.71G>T
ENST00000652707.1:c.558G>T	ENSP00000498954.1:p.Ala186=
ENST00000287878.8:c.690G>T	ENSP00000287878.3:p.Ala230=
ENST00000392801.6:c.558G>T	ENSP00000376549.2:p.Ala186=
ENST00000418337.6:c.-34G>T	ENSP00000387386.2:n.-34G>T
ENST00000476632.1:c.-34G>T	ENSP00000419493.1:n.-34G>T
ENST00000483775.1:n.95G>T
ENST00000488258.5:c.685-36679G>T	ENSP00000420783.1:n.685-36679G>T
ENST00000491938.5:n.36G>T
ENST00000492843.5:c.318G>T	ENSP00000419577.1:p.Ala106=
ENST00000493872.5:c.-34G>T	ENSP00000417252.1:n.-34G>T
NM_001040633.1:c.558G>T	NP_001035723.1:p.Ala186=
NM_001304527.1:c.318G>T	NP_001291456.1:p.Ala106=
NM_001304531.1:c.-34G>T	NP_001291460.1:n.-34G>T
NM_016203.3:c.690G>T	NP_057287.2:p.Ala230=
NM_024429.1:c.-34G>T	NP_077747.1:n.-34G>T
XM_005250002.2:c.690G>T	XP_005250059.1:p.Ala230=
XM_005250004.2:c.558G>T	XP_005250061.1:p.Ala186=
XM_005250006.3:c.318G>T	XP_005250063.1:p.Ala106=
XM_006716021.2:c.678G>T	XP_006716084.1:p.Ala226=
XM_011516282.1:c.678G>T	XP_011514584.1:p.Ala226=
XM_011516283.1:c.678G>T	XP_011514585.1:p.Ala226=
XM_011516284.1:c.678G>T	XP_011514586.1:p.Ala226=
XM_011516285.1:c.-34G>T	XP_011514587.1:n.-34G>T
XM_011516287.1:c.-29-36679G>T	XP_011514589.1:n.-29-36679G>T
NM_001363698.1:c.318G>T	NP_001350627.1:p.Ala106=
XM_005250002.4:c.690G>T	XP_005250059.1:p.Ala230=
XM_005250004.4:c.558G>T	XP_005250061.1:p.Ala186=
XM_005250006.5:c.318G>T	XP_005250063.1:p.Ala106=
XM_011516285.2:c.-34G>T	XP_011514587.1:n.-34G>T
XM_017012268.2:c.558G>T	XP_016867757.1:p.Ala186=
XM_017012269.1:c.690G>T	XP_016867758.1:p.Ala230=
XM_017012270.1:c.558G>T	XP_016867759.1:p.Ala186=
XM_017012271.2:c.558G>T	XP_016867760.1:p.Ala186=
XM_017012272.1:c.558G>T	XP_016867761.1:p.Ala186=
XM_017012274.2:c.-34G>T	XP_016867763.1:n.-34G>T
XM_017012275.2:c.-26-36682G>T	XP_016867764.1:n.-26-36682G>T
XM_017012276.2:c.-34G>T	XP_016867765.1:n.-34G>T
XM_017012278.1:c.-29-36679G>T	XP_016867767.1:n.-29-36679G>T
XM_017012279.2:c.-29-36679G>T	XP_016867768.1:n.-29-36679G>T
XM_017012280.2:c.-26-36682G>T	XP_016867769.1:n.-26-36682G>T
XM_017012281.2:c.-26-36682G>T	XP_016867770.1:n.-26-36682G>T
XM_024446786.1:c.558G>T	XP_024302554.1:p.Ala186=
XM_024446787.1:c.-34G>T	XP_024302555.1:n.-34G>T
XM_024446788.1:c.-34G>T	XP_024302556.1:n.-34G>T
XM_024446789.1:c.-34G>T	XP_024302557.1:n.-34G>T
NM_016203.4:c.690G>T MANE Select	NP_057287.2:p.Ala230=
NM_001040633.2:c.558G>T	NP_001035723.1:p.Ala186=
NM_001304527.2:c.318G>T	NP_001291456.1:p.Ala106=
NM_001304531.2:c.-34G>T	NP_001291460.1:n.-34G>T
NM_001363698.2:c.318G>T	NP_001350627.1:p.Ala106=
NM_024429.2:c.-34G>T	NP_077747.1:n.-34G>T