Canonical Allele Identifier: CA458668711

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 754397
• ClinVar RCV Id: RCV001419367
• dbSNP Id: rs1584956582
• MyVariant Identifiers: chr7:g.151265820G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151568734G>A , CM000669.2:g.151568734G>A	GRCh38
NC_000007.13:g.151265820G>A , CM000669.1:g.151265820G>A	GRCh37
NC_000007.12:g.150896753G>A	NCBI36
NG_007486.1:g.313497C>T
NG_007486.2:g.313498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.489C>T	ENSP00000420645.3:p.Leu163=
ENST00000652321.2:c.1212C>T	ENSP00000498886.2:p.Leu404=
ENST00000287878.9:c.1215C>T MANE Select	ENSP00000287878.3:p.Leu405=
ENST00000476632.2:c.492C>T	ENSP00000419493.2:p.Leu164=
ENST00000478989.6:c.275C>T
ENST00000492843.6:c.840C>T	ENSP00000419577.2:p.Leu280=
ENST00000650851.1:n.709C>T
ENST00000650858.1:c.432C>T	ENSP00000498384.1:p.Leu144=
ENST00000650948.1:n.1330C>T
ENST00000651188.1:c.*346+1437C>T	ENSP00000498557.1:n.*346+1437C>T
ENST00000651303.1:c.*534C>T	ENSP00000498428.1:n.*534C>T
ENST00000651378.1:c.492C>T	ENSP00000499103.1:p.Leu164=
ENST00000651764.1:c.1083C>T	ENSP00000498796.1:p.Leu361=
ENST00000651836.1:c.983C>T	ENSP00000499156.1:n.983C>T
ENST00000652047.1:c.1080C>T	ENSP00000499111.1:p.Leu360=
ENST00000652136.1:n.948C>T
ENST00000652159.1:c.1083C>T	ENSP00000499025.1:p.Leu361=
ENST00000652397.1:c.492C>T	ENSP00000498351.1:p.Leu164=
ENST00000287878.8:c.1215C>T	ENSP00000287878.3:p.Leu405=
ENST00000392801.6:c.1083C>T	ENSP00000376549.2:p.Leu361=
ENST00000418337.6:c.492C>T	ENSP00000387386.2:p.Leu164=
ENST00000478989.5:c.267C>T	ENSP00000420645.1:p.Leu89=
ENST00000488258.5:c.*455C>T	ENSP00000420783.1:n.*455C>T
ENST00000492843.5:c.843C>T	ENSP00000419577.1:p.Leu281=
NM_001040633.1:c.1083C>T	NP_001035723.1:p.Leu361=
NM_001304527.1:c.840C>T	NP_001291456.1:p.Leu280=
NM_001304531.1:c.492C>T	NP_001291460.1:p.Leu164=
NM_016203.3:c.1215C>T	NP_057287.2:p.Leu405=
NM_024429.1:c.492C>T	NP_077747.1:p.Leu164=
XM_005250002.2:c.1215C>T	XP_005250059.1:p.Leu405=
XM_005250004.2:c.1083C>T	XP_005250061.1:p.Leu361=
XM_005250006.3:c.843C>T	XP_005250063.1:p.Leu281=
XM_006716021.2:c.1203C>T	XP_006716084.1:p.Leu401=
XM_011516282.1:c.1200C>T	XP_011514584.1:p.Leu400=
XM_011516283.1:c.1203C>T	XP_011514585.1:p.Leu401=
XM_011516284.1:c.1200C>T	XP_011514586.1:p.Leu400=
XM_011516285.1:c.492C>T	XP_011514587.1:p.Leu164=
XM_011516286.1:c.468C>T	XP_011514588.1:p.Leu156=
XM_011516287.1:c.432C>T	XP_011514589.1:p.Leu144=
NM_001363698.1:c.843C>T	NP_001350627.1:p.Leu281=
XM_005250002.4:c.1215C>T	XP_005250059.1:p.Leu405=
XM_005250004.4:c.1083C>T	XP_005250061.1:p.Leu361=
XM_005250006.5:c.843C>T	XP_005250063.1:p.Leu281=
XM_011516285.2:c.492C>T	XP_011514587.1:p.Leu164=
XM_011516286.2:c.468C>T	XP_011514588.1:p.Leu156=
XM_017012268.2:c.1080C>T	XP_016867757.1:p.Leu360=
XM_017012269.1:c.1212C>T	XP_016867758.1:p.Leu404=
XM_017012270.1:c.1083C>T	XP_016867759.1:p.Leu361=
XM_017012271.2:c.1080C>T	XP_016867760.1:p.Leu360=
XM_017012272.1:c.1080C>T	XP_016867761.1:p.Leu360=
XM_017012274.2:c.489C>T	XP_016867763.1:p.Leu163=
XM_017012275.2:c.432C>T	XP_016867764.1:p.Leu144=
XM_017012276.2:c.489C>T	XP_016867765.1:p.Leu163=
XM_017012277.2:c.468C>T	XP_016867766.1:p.Leu156=
XM_017012278.1:c.432C>T	XP_016867767.1:p.Leu144=
XM_017012279.2:c.432C>T	XP_016867768.1:p.Leu144=
XM_017012280.2:c.432C>T	XP_016867769.1:p.Leu144=
XM_017012281.2:c.432C>T	XP_016867770.1:p.Leu144=
XM_024446786.1:c.1083C>T	XP_024302554.1:p.Leu361=
XM_024446787.1:c.492C>T	XP_024302555.1:p.Leu164=
XM_024446788.1:c.489C>T	XP_024302556.1:p.Leu163=
XM_024446789.1:c.492C>T	XP_024302557.1:p.Leu164=
NM_016203.4:c.1215C>T MANE Select	NP_057287.2:p.Leu405=
NM_001040633.2:c.1083C>T	NP_001035723.1:p.Leu361=
NM_001304527.2:c.840C>T	NP_001291456.1:p.Leu280=
NM_001304531.2:c.492C>T	NP_001291460.1:p.Leu164=
NM_001363698.2:c.843C>T	NP_001350627.1:p.Leu281=
NM_024429.2:c.492C>T	NP_077747.1:p.Leu164=