Canonical Allele Identifier: CA013508

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 179205
• ClinVar RCV Id: RCV000155991 ; RCV000617676 ; RCV000766635 ; RCV000815410
• dbSNP Id: rs727504707
• gnomAD v4: 7-151572709-C-T
• COSMIC: COSM314439 ; COSM314440
• MyVariant Identifiers: chr7:g.151269795C>T (hg19) ; chr7:g.151572709C>T (hg38)
• PubMed: PMID:27532257 ; PMID:28431061 ; PMID:28546535

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151572709C>T , CM000669.2:g.151572709C>T	GRCh38
NC_000007.13:g.151269795C>T , CM000669.1:g.151269795C>T	GRCh37
NC_000007.12:g.150900728C>T	NCBI36
NG_007486.1:g.309522G>A
NG_007486.2:g.309523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.280G>A	ENSP00000420645.3:p.Val94Ile
ENST00000652321.2:c.1003G>A	ENSP00000498886.2:p.Val335Ile
ENST00000287878.9:c.1006G>A MANE Select	ENSP00000287878.3:p.Val336Ile
ENST00000476632.2:c.283G>A	ENSP00000419493.2:p.Val95Ile
ENST00000478989.6:c.66G>A
ENST00000491938.6:n.349G>A
ENST00000492843.6:c.631G>A	ENSP00000419577.2:p.Val211Ile
ENST00000650851.1:n.500G>A
ENST00000650858.1:c.223G>A	ENSP00000498384.1:p.Val75Ile
ENST00000650948.1:n.1121G>A
ENST00000651188.1:c.*246G>A	ENSP00000498557.1:n.*246G>A
ENST00000651290.1:n.149G>A
ENST00000651303.1:c.*325G>A	ENSP00000498428.1:n.*325G>A
ENST00000651378.1:c.283G>A	ENSP00000499103.1:p.Val95Ile
ENST00000651764.1:c.874G>A	ENSP00000498796.1:p.Val292Ile
ENST00000651836.1:c.774G>A	ENSP00000499156.1:n.774G>A
ENST00000652047.1:c.871G>A	ENSP00000499111.1:p.Val291Ile
ENST00000652136.1:n.739G>A
ENST00000652159.1:c.874G>A	ENSP00000499025.1:p.Val292Ile
ENST00000652397.1:c.283G>A	ENSP00000498351.1:p.Val95Ile
ENST00000287878.8:c.1006G>A	ENSP00000287878.3:p.Val336Ile
ENST00000392801.6:c.874G>A	ENSP00000376549.2:p.Val292Ile
ENST00000418337.6:c.283G>A	ENSP00000387386.2:p.Val95Ile
ENST00000476632.1:c.283G>A	ENSP00000419493.1:p.Val95Ile
ENST00000478989.5:c.58G>A	ENSP00000420645.1:p.Val20Ile
ENST00000488258.5:c.*246G>A	ENSP00000420783.1:n.*246G>A
ENST00000491938.5:n.352G>A
ENST00000492843.5:c.634G>A	ENSP00000419577.1:p.Val212Ile
ENST00000493872.5:c.*255G>A	ENSP00000417252.1:n.*255G>A
NM_001040633.1:c.874G>A	NP_001035723.1:p.Val292Ile
NM_001304527.1:c.631G>A	NP_001291456.1:p.Val211Ile
NM_001304531.1:c.283G>A	NP_001291460.1:p.Val95Ile
NM_016203.3:c.1006G>A	NP_057287.2:p.Val336Ile
NM_024429.1:c.283G>A	NP_077747.1:p.Val95Ile
XM_005250002.2:c.1006G>A	XP_005250059.1:p.Val336Ile
XM_005250004.2:c.874G>A	XP_005250061.1:p.Val292Ile
XM_005250006.3:c.634G>A	XP_005250063.1:p.Val212Ile
XM_006716021.2:c.994G>A	XP_006716084.1:p.Val332Ile
XM_011516282.1:c.991G>A	XP_011514584.1:p.Val331Ile
XM_011516283.1:c.994G>A	XP_011514585.1:p.Val332Ile
XM_011516284.1:c.991G>A	XP_011514586.1:p.Val331Ile
XM_011516285.1:c.283G>A	XP_011514587.1:p.Val95Ile
XM_011516286.1:c.259G>A	XP_011514588.1:p.Val87Ile
XM_011516287.1:c.223G>A	XP_011514589.1:p.Val75Ile
NM_001363698.1:c.634G>A	NP_001350627.1:p.Val212Ile
XM_005250002.4:c.1006G>A	XP_005250059.1:p.Val336Ile
XM_005250004.4:c.874G>A	XP_005250061.1:p.Val292Ile
XM_005250006.5:c.634G>A	XP_005250063.1:p.Val212Ile
XM_011516285.2:c.283G>A	XP_011514587.1:p.Val95Ile
XM_011516286.2:c.259G>A	XP_011514588.1:p.Val87Ile
XM_017012268.2:c.871G>A	XP_016867757.1:p.Val291Ile
XM_017012269.1:c.1003G>A	XP_016867758.1:p.Val335Ile
XM_017012270.1:c.874G>A	XP_016867759.1:p.Val292Ile
XM_017012271.2:c.871G>A	XP_016867760.1:p.Val291Ile
XM_017012272.1:c.871G>A	XP_016867761.1:p.Val291Ile
XM_017012274.2:c.280G>A	XP_016867763.1:p.Val94Ile
XM_017012275.2:c.223G>A	XP_016867764.1:p.Val75Ile
XM_017012276.2:c.280G>A	XP_016867765.1:p.Val94Ile
XM_017012277.2:c.259G>A	XP_016867766.1:p.Val87Ile
XM_017012278.1:c.223G>A	XP_016867767.1:p.Val75Ile
XM_017012279.2:c.223G>A	XP_016867768.1:p.Val75Ile
XM_017012280.2:c.223G>A	XP_016867769.1:p.Val75Ile
XM_017012281.2:c.223G>A	XP_016867770.1:p.Val75Ile
XM_024446786.1:c.874G>A	XP_024302554.1:p.Val292Ile
XM_024446787.1:c.283G>A	XP_024302555.1:p.Val95Ile
XM_024446788.1:c.280G>A	XP_024302556.1:p.Val94Ile
XM_024446789.1:c.283G>A	XP_024302557.1:p.Val95Ile
NM_016203.4:c.1006G>A MANE Select	NP_057287.2:p.Val336Ile
NM_001040633.2:c.874G>A	NP_001035723.1:p.Val292Ile
NM_001304527.2:c.631G>A	NP_001291456.1:p.Val211Ile
NM_001304531.2:c.283G>A	NP_001291460.1:p.Val95Ile
NM_001363698.2:c.634G>A	NP_001350627.1:p.Val212Ile
NM_024429.2:c.283G>A	NP_077747.1:p.Val95Ile