Canonical Allele Identifier: CA10625530

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 359335
• ClinVar RCV Id: RCV000353757 ; RCV000395643
• dbSNP Id: rs1051956
• gnomAD v2: 7-151253765-C-A
• gnomAD v3: 7-151556679-C-A
• gnomAD v4: 7-151556679-C-A
• MyVariant Identifiers: chr7:g.151253765C>A (hg19) ; chr7:g.151556679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151556679C>A , CM000669.2:g.151556679C>A	GRCh38
NC_000007.13:g.151253765C>A , CM000669.1:g.151253765C>A	GRCh37
NC_000007.12:g.150884698C>A	NCBI36
NG_007486.1:g.325552G>T
NG_007486.2:g.325553G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*968G>T	ENSP00000420645.3:n.*968G>T
ENST00000652321.2:c.*522G>T	ENSP00000498886.2:n.*522G>T
ENST00000287878.9:c.*522G>T MANE Select	ENSP00000287878.3:n.*522G>T
ENST00000476632.2:c.*522G>T	ENSP00000419493.2:n.*522G>T
ENST00000492843.6:c.*522G>T	ENSP00000419577.2:n.*522G>T
ENST00000650664.1:n.1947G>T
ENST00000650851.1:n.1726G>T
ENST00000650858.1:c.*522G>T	ENSP00000498384.1:n.*522G>T
ENST00000650948.1:n.4618G>T
ENST00000651188.1:c.*1345G>T	ENSP00000498557.1:n.*1345G>T
ENST00000651303.1:c.*1551G>T	ENSP00000498428.1:n.*1551G>T
ENST00000651378.1:c.*522G>T	ENSP00000499103.1:n.*522G>T
ENST00000651764.1:c.*522G>T	ENSP00000498796.1:n.*522G>T
ENST00000651836.1:c.2422G>T	ENSP00000499156.1:n.2422G>T
ENST00000651954.1:n.2448G>T
ENST00000652136.1:n.2779G>T
ENST00000652159.1:c.*522G>T	ENSP00000499025.1:n.*522G>T
ENST00000287878.8:c.*522G>T	ENSP00000287878.3:n.*522G>T
ENST00000418337.6:c.*522G>T	ENSP00000387386.2:n.*522G>T
ENST00000492843.5:c.*522G>T	ENSP00000419577.1:n.*522G>T
NM_001040633.1:c.*522G>T	NP_001035723.1:n.*522G>T
NM_001304527.1:c.*522G>T	NP_001291456.1:n.*522G>T
NM_001304531.1:c.*522G>T	NP_001291460.1:n.*522G>T
NM_016203.3:c.*522G>T	NP_057287.2:n.*522G>T
NM_024429.1:c.*522G>T	NP_077747.1:n.*522G>T
XM_005250002.2:c.*3663G>T	XP_005250059.1:n.*3663G>T
XM_005250004.2:c.*3663G>T	XP_005250061.1:n.*3663G>T
XM_005250006.3:c.*3663G>T	XP_005250063.1:n.*3663G>T
XM_006716021.2:c.*3663G>T	XP_006716084.1:n.*3663G>T
XM_011516282.1:c.*3663G>T	XP_011514584.1:n.*3663G>T
XM_011516283.1:c.*522G>T	XP_011514585.1:n.*522G>T
XM_011516284.1:c.*522G>T	XP_011514586.1:n.*522G>T
XM_011516285.1:c.*3663G>T	XP_011514587.1:n.*3663G>T
XM_011516286.1:c.*3663G>T	XP_011514588.1:n.*3663G>T
XM_011516287.1:c.*3663G>T	XP_011514589.1:n.*3663G>T
NM_001363698.1:c.*522G>T	NP_001350627.1:n.*522G>T
XM_005250002.4:c.*3663G>T	XP_005250059.1:n.*3663G>T
XM_005250004.4:c.*3663G>T	XP_005250061.1:n.*3663G>T
XM_005250006.5:c.*3663G>T	XP_005250063.1:n.*3663G>T
XM_011516285.2:c.*3663G>T	XP_011514587.1:n.*3663G>T
XM_011516286.2:c.*3663G>T	XP_011514588.1:n.*3663G>T
XM_017012268.2:c.*3663G>T	XP_016867757.1:n.*3663G>T
XM_017012269.1:c.*522G>T	XP_016867758.1:n.*522G>T
XM_017012270.1:c.*522G>T	XP_016867759.1:n.*522G>T
XM_017012271.2:c.*522G>T	XP_016867760.1:n.*522G>T
XM_017012272.1:c.*522G>T	XP_016867761.1:n.*522G>T
XM_017012274.2:c.*3663G>T	XP_016867763.1:n.*3663G>T
XM_017012275.2:c.*3663G>T	XP_016867764.1:n.*3663G>T
XM_017012276.2:c.*522G>T	XP_016867765.1:n.*522G>T
XM_017012277.2:c.*522G>T	XP_016867766.1:n.*522G>T
XM_017012278.1:c.*522G>T	XP_016867767.1:n.*522G>T
XM_017012279.2:c.*522G>T	XP_016867768.1:n.*522G>T
XM_017012280.2:c.*522G>T	XP_016867769.1:n.*522G>T
XM_017012281.2:c.*522G>T	XP_016867770.1:n.*522G>T
XM_024446786.1:c.*3663G>T	XP_024302554.1:n.*3663G>T
XM_024446787.1:c.*3663G>T	XP_024302555.1:n.*3663G>T
XM_024446788.1:c.*3663G>T	XP_024302556.1:n.*3663G>T
XM_024446789.1:c.*522G>T	XP_024302557.1:n.*522G>T
NM_016203.4:c.*522G>T MANE Select	NP_057287.2:n.*522G>T
NM_001040633.2:c.*522G>T	NP_001035723.1:n.*522G>T
NM_001304527.2:c.*522G>T	NP_001291456.1:n.*522G>T
NM_001304531.2:c.*522G>T	NP_001291460.1:n.*522G>T
NM_001363698.2:c.*522G>T	NP_001350627.1:n.*522G>T
NM_024429.2:c.*522G>T	NP_077747.1:n.*522G>T