Canonical Allele Identifier: CA014249

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 45721
• ClinVar RCV Id: RCV000038943 ; RCV000252984 ; RCV000641195 ; RCV000769253 ; RCV001084750 ; RCV001163068 ; RCV001163069
• dbSNP Id: rs141804012
• ExAC: 7:151372719 G / A
• gnomAD v2: 7-151372719-G-A
• gnomAD v3: 7-151675633-G-A
• gnomAD v4: 7-151675633-G-A
• COSMIC: COSM3262256 ; COSM3262257
• MyVariant Identifiers: chr7:g.151372719G>A (hg19) ; chr7:g.151675633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151675633G>A , CM000669.2:g.151675633G>A	GRCh38
NC_000007.13:g.151372719G>A , CM000669.1:g.151372719G>A	GRCh37
NC_000007.12:g.151003652G>A	NCBI36
NG_007486.1:g.206598C>T
NG_007486.2:g.206599C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000652321.2:c.471C>T	ENSP00000498886.2:p.Ser157=
ENST00000287878.9:c.471C>T MANE Select	ENSP00000287878.3:p.Ser157=
ENST00000487375.2:n.348C>T
ENST00000492843.6:c.99C>T	ENSP00000419577.2:p.Ser33=
ENST00000650858.1:c.-243C>T	ENSP00000498384.1:n.-243C>T
ENST00000650948.1:n.586C>T
ENST00000651188.1:c.339C>T	ENSP00000498557.1:p.Ser113=
ENST00000651303.1:c.339C>T	ENSP00000498428.1:p.Ser113=
ENST00000651378.1:c.-253C>T	ENSP00000499103.1:n.-253C>T
ENST00000651764.1:c.339C>T	ENSP00000498796.1:p.Ser113=
ENST00000651836.1:c.242C>T	ENSP00000499156.1:p.Pro81Leu
ENST00000652047.1:c.339C>T	ENSP00000499111.1:p.Ser113=
ENST00000652136.1:n.207C>T
ENST00000652159.1:c.339C>T	ENSP00000499025.1:p.Ser113=
ENST00000652321.1:c.471C>T	ENSP00000498886.1:p.Ser157=
ENST00000652707.1:c.339C>T	ENSP00000498954.1:p.Ser113=
ENST00000287878.8:c.471C>T	ENSP00000287878.3:p.Ser157=
ENST00000392801.6:c.339C>T	ENSP00000376549.2:p.Ser113=
ENST00000461529.1:n.490C>T
ENST00000481434.5:n.976C>T
ENST00000487375.1:n.348C>T
ENST00000488258.5:c.471C>T	ENSP00000420783.1:p.Ser157=
ENST00000492843.5:c.99C>T	ENSP00000419577.1:p.Ser33=
NM_001040633.1:c.339C>T	NP_001035723.1:p.Ser113=
NM_001304527.1:c.99C>T	NP_001291456.1:p.Ser33=
NM_016203.3:c.471C>T	NP_057287.2:p.Ser157=
XM_005250002.2:c.471C>T	XP_005250059.1:p.Ser157=
XM_005250004.2:c.339C>T	XP_005250061.1:p.Ser113=
XM_005250006.3:c.99C>T	XP_005250063.1:p.Ser33=
XM_006716021.2:c.459C>T	XP_006716084.1:p.Ser153=
XM_011516282.1:c.459C>T	XP_011514584.1:p.Ser153=
XM_011516283.1:c.459C>T	XP_011514585.1:p.Ser153=
XM_011516284.1:c.459C>T	XP_011514586.1:p.Ser153=
XM_011516287.1:c.-243C>T	XP_011514589.1:n.-243C>T
NM_001363698.1:c.99C>T	NP_001350627.1:p.Ser33=
XM_005250002.4:c.471C>T	XP_005250059.1:p.Ser157=
XM_005250004.4:c.339C>T	XP_005250061.1:p.Ser113=
XM_005250006.5:c.99C>T	XP_005250063.1:p.Ser33=
XM_017012268.2:c.339C>T	XP_016867757.1:p.Ser113=
XM_017012269.1:c.471C>T	XP_016867758.1:p.Ser157=
XM_017012270.1:c.339C>T	XP_016867759.1:p.Ser113=
XM_017012271.2:c.339C>T	XP_016867760.1:p.Ser113=
XM_017012272.1:c.339C>T	XP_016867761.1:p.Ser113=
XM_017012275.2:c.-240C>T	XP_016867764.1:n.-240C>T
XM_017012276.2:c.-253C>T	XP_016867765.1:n.-253C>T
XM_017012278.1:c.-243C>T	XP_016867767.1:n.-243C>T
XM_017012279.2:c.-243C>T	XP_016867768.1:n.-243C>T
XM_017012280.2:c.-240C>T	XP_016867769.1:n.-240C>T
XM_017012281.2:c.-240C>T	XP_016867770.1:n.-240C>T
XM_024446786.1:c.339C>T	XP_024302554.1:p.Ser113=
XM_024446787.1:c.-253C>T	XP_024302555.1:n.-253C>T
XM_024446788.1:c.-253C>T	XP_024302556.1:n.-253C>T
XM_024446789.1:c.-253C>T	XP_024302557.1:n.-253C>T
NM_016203.4:c.471C>T MANE Select	NP_057287.2:p.Ser157=
NM_001040633.2:c.339C>T	NP_001035723.1:p.Ser113=
NM_001304527.2:c.99C>T	NP_001291456.1:p.Ser33=
NM_001363698.2:c.99C>T	NP_001350627.1:p.Ser33=