Canonical Allele Identifier: CA370070304

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 2126244
• ClinVar RCV Id: RCV003044026
• MyVariant Identifiers: chr7:g.151257649G>C (hg19) ; chr7:g.151560563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151560563G>C , CM000669.2:g.151560563G>C	GRCh38
NC_000007.13:g.151257649G>C , CM000669.1:g.151257649G>C	GRCh37
NC_000007.12:g.150888582G>C	NCBI36
NG_007486.1:g.321668C>G
NG_007486.2:g.321669C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*375C>G	ENSP00000420645.3:n.*375C>G
ENST00000652321.2:c.1636C>G	ENSP00000498886.2:p.Leu546Val
ENST00000287878.9:c.1639C>G MANE Select	ENSP00000287878.3:p.Leu547Val
ENST00000476632.2:c.916C>G	ENSP00000419493.2:p.Leu306Val
ENST00000492843.6:c.1264C>G	ENSP00000419577.2:p.Leu422Val
ENST00000650664.1:n.1354C>G
ENST00000650851.1:n.1133C>G
ENST00000650858.1:c.856C>G	ENSP00000498384.1:p.Leu286Val
ENST00000650948.1:n.4025C>G
ENST00000651188.1:c.*752C>G	ENSP00000498557.1:n.*752C>G
ENST00000651303.1:c.*958C>G	ENSP00000498428.1:n.*958C>G
ENST00000651378.1:c.916C>G	ENSP00000499103.1:p.Leu306Val
ENST00000651764.1:c.1507C>G	ENSP00000498796.1:p.Leu503Val
ENST00000651836.1:c.1829C>G	ENSP00000499156.1:n.1829C>G
ENST00000651954.1:n.1855C>G
ENST00000652047.1:c.1504C>G	ENSP00000499111.1:p.Leu502Val
ENST00000652136.1:n.2186C>G
ENST00000652159.1:c.1507C>G	ENSP00000499025.1:p.Leu503Val
ENST00000652397.1:c.*375C>G	ENSP00000498351.1:n.*375C>G
ENST00000287878.8:c.1639C>G	ENSP00000287878.3:p.Leu547Val
ENST00000392801.6:c.1507C>G	ENSP00000376549.2:p.Leu503Val
ENST00000418337.6:c.916C>G	ENSP00000387386.2:p.Leu306Val
ENST00000479461.1:n.291C>G
ENST00000485183.1:n.292C>G
ENST00000492843.5:c.1267C>G	ENSP00000419577.1:p.Leu423Val
NM_001040633.1:c.1507C>G	NP_001035723.1:p.Leu503Val
NM_001304527.1:c.1264C>G	NP_001291456.1:p.Leu422Val
NM_001304531.1:c.916C>G	NP_001291460.1:p.Leu306Val
NM_016203.3:c.1639C>G	NP_057287.2:p.Leu547Val
NM_024429.1:c.916C>G	NP_077747.1:p.Leu306Val
XM_005250002.2:c.1639C>G	XP_005250059.1:p.Leu547Val
XM_005250004.2:c.1507C>G	XP_005250061.1:p.Leu503Val
XM_005250006.3:c.1267C>G	XP_005250063.1:p.Leu423Val
XM_006716021.2:c.1627C>G	XP_006716084.1:p.Leu543Val
XM_011516282.1:c.1624C>G	XP_011514584.1:p.Leu542Val
XM_011516283.1:c.1627C>G	XP_011514585.1:p.Leu543Val
XM_011516284.1:c.1624C>G	XP_011514586.1:p.Leu542Val
XM_011516285.1:c.916C>G	XP_011514587.1:p.Leu306Val
XM_011516286.1:c.892C>G	XP_011514588.1:p.Leu298Val
XM_011516287.1:c.856C>G	XP_011514589.1:p.Leu286Val
NM_001363698.1:c.1267C>G	NP_001350627.1:p.Leu423Val
XM_005250002.4:c.1639C>G	XP_005250059.1:p.Leu547Val
XM_005250004.4:c.1507C>G	XP_005250061.1:p.Leu503Val
XM_005250006.5:c.1267C>G	XP_005250063.1:p.Leu423Val
XM_011516285.2:c.916C>G	XP_011514587.1:p.Leu306Val
XM_011516286.2:c.892C>G	XP_011514588.1:p.Leu298Val
XM_017012268.2:c.1504C>G	XP_016867757.1:p.Leu502Val
XM_017012269.1:c.1636C>G	XP_016867758.1:p.Leu546Val
XM_017012270.1:c.1507C>G	XP_016867759.1:p.Leu503Val
XM_017012271.2:c.1504C>G	XP_016867760.1:p.Leu502Val
XM_017012272.1:c.1504C>G	XP_016867761.1:p.Leu502Val
XM_017012274.2:c.913C>G	XP_016867763.1:p.Leu305Val
XM_017012275.2:c.856C>G	XP_016867764.1:p.Leu286Val
XM_017012276.2:c.913C>G	XP_016867765.1:p.Leu305Val
XM_017012277.2:c.892C>G	XP_016867766.1:p.Leu298Val
XM_017012278.1:c.856C>G	XP_016867767.1:p.Leu286Val
XM_017012279.2:c.856C>G	XP_016867768.1:p.Leu286Val
XM_017012280.2:c.856C>G	XP_016867769.1:p.Leu286Val
XM_017012281.2:c.856C>G	XP_016867770.1:p.Leu286Val
XM_024446786.1:c.1507C>G	XP_024302554.1:p.Leu503Val
XM_024446787.1:c.916C>G	XP_024302555.1:p.Leu306Val
XM_024446788.1:c.913C>G	XP_024302556.1:p.Leu305Val
XM_024446789.1:c.916C>G	XP_024302557.1:p.Leu306Val
NM_016203.4:c.1639C>G MANE Select	NP_057287.2:p.Leu547Val
NM_001040633.2:c.1507C>G	NP_001035723.1:p.Leu503Val
NM_001304527.2:c.1264C>G	NP_001291456.1:p.Leu422Val
NM_001304531.2:c.916C>G	NP_001291460.1:p.Leu306Val
NM_001363698.2:c.1267C>G	NP_001350627.1:p.Leu423Val
NM_024429.2:c.916C>G	NP_077747.1:p.Leu306Val