Canonical Allele Identifier: CA1108758198

Gene: PRKAG2

Linked Data

• dbSNP Id: rs1824895219
• gnomAD v3: 7-151632488-G-GCCGTGGCCCGCGT
• gnomAD v4: 7-151632488-G-GCCGTGGCCCGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151632491_151632503dup , CM000669.2:g.151632491_151632503dup	GRCh38
NC_000007.13:g.151329577_151329589dup , CM000669.1:g.151329577_151329589dup	GRCh37
NC_000007.12:g.150960510_150960522dup	NCBI36
NG_007486.1:g.249730_249742dup
NG_007486.2:g.249731_249743dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.685-363_685-351dup	ENSP00000498886.2:n.685-363_685-351dup
ENST00000287878.9:c.685-363_685-351dup MANE Select	ENSP00000287878.3:n.685-363_685-351dup
ENST00000476632.2:c.-40+70_-40+82dup	ENSP00000419493.2:n.-40+70_-40+82dup
ENST00000487375.2:n.562-363_562-351dup
ENST00000492843.6:c.313-363_313-351dup	ENSP00000419577.2:n.313-363_313-351dup
ENST00000650858.1:c.-29-37047_-29-37035dup	ENSP00000498384.1:n.-29-37047_-29-37035dup
ENST00000650948.1:n.800-363_800-351dup
ENST00000651188.1:c.553-37050_553-37038dup	ENSP00000498557.1:n.553-37050_553-37038dup
ENST00000651303.1:c.553-363_553-351dup	ENSP00000498428.1:n.553-363_553-351dup
ENST00000651378.1:c.-39-363_-39-351dup	ENSP00000499103.1:n.-39-363_-39-351dup
ENST00000651764.1:c.553-363_553-351dup	ENSP00000498796.1:n.553-363_553-351dup
ENST00000651836.1:c.456-363_456-351dup	ENSP00000499156.1:n.456-363_456-351dup
ENST00000652047.1:c.553-363_553-351dup	ENSP00000499111.1:n.553-363_553-351dup
ENST00000652136.1:n.421-363_421-351dup
ENST00000652159.1:c.553-363_553-351dup	ENSP00000499025.1:n.553-363_553-351dup
ENST00000652321.1:c.685-363_685-351dup	ENSP00000498886.1:n.685-363_685-351dup
ENST00000652707.1:c.553-363_553-351dup	ENSP00000498954.1:n.553-363_553-351dup
ENST00000287878.8:c.685-363_685-351dup	ENSP00000287878.3:n.685-363_685-351dup
ENST00000392801.6:c.553-363_553-351dup	ENSP00000376549.2:n.553-363_553-351dup
ENST00000476632.1:c.-40+70_-40+82dup	ENSP00000419493.1:n.-40+70_-40+82dup
ENST00000488258.5:c.685-37047_685-37035dup	ENSP00000420783.1:n.685-37047_685-37035dup
ENST00000492843.5:c.313-363_313-351dup	ENSP00000419577.1:n.313-363_313-351dup
NM_001040633.1:c.553-363_553-351dup	NP_001035723.1:n.553-363_553-351dup
NM_001304527.1:c.313-363_313-351dup	NP_001291456.1:n.313-363_313-351dup
NM_001304531.1:c.-40+70_-40+82dup	NP_001291460.1:n.-40+70_-40+82dup
NM_016203.3:c.685-363_685-351dup	NP_057287.2:n.685-363_685-351dup
XM_005250002.2:c.685-363_685-351dup	XP_005250059.1:n.685-363_685-351dup
XM_005250004.2:c.553-363_553-351dup	XP_005250061.1:n.553-363_553-351dup
XM_005250006.3:c.313-363_313-351dup	XP_005250063.1:n.313-363_313-351dup
XM_006716021.2:c.673-363_673-351dup	XP_006716084.1:n.673-363_673-351dup
XM_011516282.1:c.673-363_673-351dup	XP_011514584.1:n.673-363_673-351dup
XM_011516283.1:c.673-363_673-351dup	XP_011514585.1:n.673-363_673-351dup
XM_011516284.1:c.673-363_673-351dup	XP_011514586.1:n.673-363_673-351dup
XM_011516285.1:c.-40+70_-40+82dup	XP_011514587.1:n.-40+70_-40+82dup
XM_011516287.1:c.-29-37047_-29-37035dup	XP_011514589.1:n.-29-37047_-29-37035dup
NM_001363698.1:c.313-363_313-351dup	NP_001350627.1:n.313-363_313-351dup
XM_005250002.4:c.685-363_685-351dup	XP_005250059.1:n.685-363_685-351dup
XM_005250004.4:c.553-363_553-351dup	XP_005250061.1:n.553-363_553-351dup
XM_005250006.5:c.313-363_313-351dup	XP_005250063.1:n.313-363_313-351dup
XM_011516285.2:c.-40+70_-40+82dup	XP_011514587.1:n.-40+70_-40+82dup
XM_017012268.2:c.553-363_553-351dup	XP_016867757.1:n.553-363_553-351dup
XM_017012269.1:c.685-363_685-351dup	XP_016867758.1:n.685-363_685-351dup
XM_017012270.1:c.553-363_553-351dup	XP_016867759.1:n.553-363_553-351dup
XM_017012271.2:c.553-363_553-351dup	XP_016867760.1:n.553-363_553-351dup
XM_017012272.1:c.553-363_553-351dup	XP_016867761.1:n.553-363_553-351dup
XM_017012274.2:c.-40+70_-40+82dup	XP_016867763.1:n.-40+70_-40+82dup
XM_017012275.2:c.-26-37050_-26-37038dup	XP_016867764.1:n.-26-37050_-26-37038dup
XM_017012276.2:c.-39-363_-39-351dup	XP_016867765.1:n.-39-363_-39-351dup
XM_017012278.1:c.-29-37047_-29-37035dup	XP_016867767.1:n.-29-37047_-29-37035dup
XM_017012279.2:c.-29-37047_-29-37035dup	XP_016867768.1:n.-29-37047_-29-37035dup
XM_017012280.2:c.-26-37050_-26-37038dup	XP_016867769.1:n.-26-37050_-26-37038dup
XM_017012281.2:c.-26-37050_-26-37038dup	XP_016867770.1:n.-26-37050_-26-37038dup
XM_024446786.1:c.553-363_553-351dup	XP_024302554.1:n.553-363_553-351dup
XM_024446787.1:c.-39-363_-39-351dup	XP_024302555.1:n.-39-363_-39-351dup
XM_024446788.1:c.-39-363_-39-351dup	XP_024302556.1:n.-39-363_-39-351dup
XM_024446789.1:c.-39-363_-39-351dup	XP_024302557.1:n.-39-363_-39-351dup
NM_016203.4:c.685-363_685-351dup MANE Select	NP_057287.2:n.685-363_685-351dup
NM_001040633.2:c.553-363_553-351dup	NP_001035723.1:n.553-363_553-351dup
NM_001304527.2:c.313-363_313-351dup	NP_001291456.1:n.313-363_313-351dup
NM_001304531.2:c.-40+70_-40+82dup	NP_001291460.1:n.-40+70_-40+82dup
NM_001363698.2:c.313-363_313-351dup	NP_001350627.1:n.313-363_313-351dup