Canonical Allele Identifier: CA054886

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 920060
• ClinVar RCV Id: RCV001178599
• dbSNP Id: rs779098740
• ExAC: 7:151262839 G / C
• gnomAD v2: 7-151262839-G-C
• gnomAD v4: 7-151565753-G-C
• MyVariant Identifiers: chr7:g.151262839G>C (hg19) ; chr7:g.151565753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151565753G>C , CM000669.2:g.151565753G>C	GRCh38
NC_000007.13:g.151262839G>C , CM000669.1:g.151262839G>C	GRCh37
NC_000007.12:g.150893772G>C	NCBI36
NG_007486.1:g.316478C>G
NG_007486.2:g.316479C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*102C>G	ENSP00000420645.3:n.*102C>G
ENST00000652321.2:c.1363C>G	ENSP00000498886.2:p.Arg455Gly
ENST00000287878.9:c.1366C>G MANE Select	ENSP00000287878.3:p.Arg456Gly
ENST00000476632.2:c.643C>G	ENSP00000419493.2:p.Arg215Gly
ENST00000478989.6:c.467C>G
ENST00000492843.6:c.991C>G	ENSP00000419577.2:p.Arg331Gly
ENST00000650851.1:n.860C>G
ENST00000650858.1:c.583C>G	ENSP00000498384.1:p.Arg195Gly
ENST00000650948.1:n.2295C>G
ENST00000651188.1:c.*479C>G	ENSP00000498557.1:n.*479C>G
ENST00000651303.1:c.*685C>G	ENSP00000498428.1:n.*685C>G
ENST00000651378.1:c.643C>G	ENSP00000499103.1:p.Arg215Gly
ENST00000651764.1:c.1234C>G	ENSP00000498796.1:p.Arg412Gly
ENST00000651836.1:c.1220C>G	ENSP00000499156.1:n.1220C>G
ENST00000651954.1:n.1582C>G
ENST00000652047.1:c.1231C>G	ENSP00000499111.1:p.Arg411Gly
ENST00000652136.1:n.1913C>G
ENST00000652159.1:c.1234C>G	ENSP00000499025.1:p.Arg412Gly
ENST00000652397.1:c.*102C>G	ENSP00000498351.1:n.*102C>G
ENST00000287878.8:c.1366C>G	ENSP00000287878.3:p.Arg456Gly
ENST00000392801.6:c.1234C>G	ENSP00000376549.2:p.Arg412Gly
ENST00000418337.6:c.643C>G	ENSP00000387386.2:p.Arg215Gly
ENST00000478989.5:c.*102C>G	ENSP00000420645.1:n.*102C>G
ENST00000492843.5:c.994C>G	ENSP00000419577.1:p.Arg332Gly
NM_001040633.1:c.1234C>G	NP_001035723.1:p.Arg412Gly
NM_001304527.1:c.991C>G	NP_001291456.1:p.Arg331Gly
NM_001304531.1:c.643C>G	NP_001291460.1:p.Arg215Gly
NM_016203.3:c.1366C>G	NP_057287.2:p.Arg456Gly
NM_024429.1:c.643C>G	NP_077747.1:p.Arg215Gly
XM_005250002.2:c.1366C>G	XP_005250059.1:p.Arg456Gly
XM_005250004.2:c.1234C>G	XP_005250061.1:p.Arg412Gly
XM_005250006.3:c.994C>G	XP_005250063.1:p.Arg332Gly
XM_006716021.2:c.1354C>G	XP_006716084.1:p.Arg452Gly
XM_011516282.1:c.1351C>G	XP_011514584.1:p.Arg451Gly
XM_011516283.1:c.1354C>G	XP_011514585.1:p.Arg452Gly
XM_011516284.1:c.1351C>G	XP_011514586.1:p.Arg451Gly
XM_011516285.1:c.643C>G	XP_011514587.1:p.Arg215Gly
XM_011516286.1:c.619C>G	XP_011514588.1:p.Arg207Gly
XM_011516287.1:c.583C>G	XP_011514589.1:p.Arg195Gly
NM_001363698.1:c.994C>G	NP_001350627.1:p.Arg332Gly
XM_005250002.4:c.1366C>G	XP_005250059.1:p.Arg456Gly
XM_005250004.4:c.1234C>G	XP_005250061.1:p.Arg412Gly
XM_005250006.5:c.994C>G	XP_005250063.1:p.Arg332Gly
XM_011516285.2:c.643C>G	XP_011514587.1:p.Arg215Gly
XM_011516286.2:c.619C>G	XP_011514588.1:p.Arg207Gly
XM_017012268.2:c.1231C>G	XP_016867757.1:p.Arg411Gly
XM_017012269.1:c.1363C>G	XP_016867758.1:p.Arg455Gly
XM_017012270.1:c.1234C>G	XP_016867759.1:p.Arg412Gly
XM_017012271.2:c.1231C>G	XP_016867760.1:p.Arg411Gly
XM_017012272.1:c.1231C>G	XP_016867761.1:p.Arg411Gly
XM_017012274.2:c.640C>G	XP_016867763.1:p.Arg214Gly
XM_017012275.2:c.583C>G	XP_016867764.1:p.Arg195Gly
XM_017012276.2:c.640C>G	XP_016867765.1:p.Arg214Gly
XM_017012277.2:c.619C>G	XP_016867766.1:p.Arg207Gly
XM_017012278.1:c.583C>G	XP_016867767.1:p.Arg195Gly
XM_017012279.2:c.583C>G	XP_016867768.1:p.Arg195Gly
XM_017012280.2:c.583C>G	XP_016867769.1:p.Arg195Gly
XM_017012281.2:c.583C>G	XP_016867770.1:p.Arg195Gly
XM_024446786.1:c.1234C>G	XP_024302554.1:p.Arg412Gly
XM_024446787.1:c.643C>G	XP_024302555.1:p.Arg215Gly
XM_024446788.1:c.640C>G	XP_024302556.1:p.Arg214Gly
XM_024446789.1:c.643C>G	XP_024302557.1:p.Arg215Gly
NM_016203.4:c.1366C>G MANE Select	NP_057287.2:p.Arg456Gly
NM_001040633.2:c.1234C>G	NP_001035723.1:p.Arg412Gly
NM_001304527.2:c.991C>G	NP_001291456.1:p.Arg331Gly
NM_001304531.2:c.643C>G	NP_001291460.1:p.Arg215Gly
NM_001363698.2:c.994C>G	NP_001350627.1:p.Arg332Gly
NM_024429.2:c.643C>G	NP_077747.1:p.Arg215Gly