Canonical Allele Identifier: CA370069657

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 3072903
• ClinVar RCV Id: RCV004014917
• MyVariant Identifiers: chr7:g.151478373G>A (hg19) ; chr7:g.151781287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151781287G>A , CM000669.2:g.151781287G>A	GRCh38
NC_000007.13:g.151478373G>A , CM000669.1:g.151478373G>A	GRCh37
NC_000007.12:g.151109306G>A	NCBI36
NG_007486.1:g.100944C>T
NG_007486.2:g.100945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652321.2:c.331C>T	ENSP00000498886.2:p.Gln111Ter
ENST00000287878.9:c.331C>T MANE Select	ENSP00000287878.3:p.Gln111Ter
ENST00000650858.1:c.-248+33129C>T	ENSP00000498384.1:n.-248+33129C>T
ENST00000650948.1:n.446C>T
ENST00000651188.1:c.199C>T	ENSP00000498557.1:p.Gln67Ter
ENST00000651303.1:c.199C>T	ENSP00000498428.1:p.Gln67Ter
ENST00000651378.1:c.-258+33129C>T	ENSP00000499103.1:n.-258+33129C>T
ENST00000651764.1:c.199C>T	ENSP00000498796.1:p.Gln67Ter
ENST00000651836.1:c.76C>T	ENSP00000499156.1:p.Gln26Ter
ENST00000652047.1:c.199C>T	ENSP00000499111.1:p.Gln67Ter
ENST00000652136.1:n.67C>T
ENST00000652159.1:c.199C>T	ENSP00000499025.1:p.Gln67Ter
ENST00000652321.1:c.331C>T	ENSP00000498886.1:p.Gln111Ter
ENST00000652707.1:c.199C>T	ENSP00000498954.1:p.Gln67Ter
ENST00000652714.1:n.504C>T
ENST00000287878.8:c.331C>T	ENSP00000287878.3:p.Gln111Ter
ENST00000392801.6:c.199C>T	ENSP00000376549.2:p.Gln67Ter
ENST00000461529.1:n.350C>T
ENST00000481434.5:n.836C>T
ENST00000488258.5:c.331C>T	ENSP00000420783.1:p.Gln111Ter
NM_001040633.1:c.199C>T	NP_001035723.1:p.Gln67Ter
NM_016203.3:c.331C>T	NP_057287.2:p.Gln111Ter
XM_005250002.2:c.331C>T	XP_005250059.1:p.Gln111Ter
XM_005250004.2:c.199C>T	XP_005250061.1:p.Gln67Ter
XM_006716021.2:c.319C>T	XP_006716084.1:p.Gln107Ter
XM_011516282.1:c.319C>T	XP_011514584.1:p.Gln107Ter
XM_011516283.1:c.319C>T	XP_011514585.1:p.Gln107Ter
XM_011516284.1:c.319C>T	XP_011514586.1:p.Gln107Ter
XM_011516287.1:c.-383C>T	XP_011514589.1:n.-383C>T
XM_005250002.4:c.331C>T	XP_005250059.1:p.Gln111Ter
XM_005250004.4:c.199C>T	XP_005250061.1:p.Gln67Ter
XM_017012268.2:c.199C>T	XP_016867757.1:p.Gln67Ter
XM_017012269.1:c.331C>T	XP_016867758.1:p.Gln111Ter
XM_017012270.1:c.199C>T	XP_016867759.1:p.Gln67Ter
XM_017012271.2:c.199C>T	XP_016867760.1:p.Gln67Ter
XM_017012272.1:c.199C>T	XP_016867761.1:p.Gln67Ter
XM_017012275.2:c.-380C>T	XP_016867764.1:n.-380C>T
XM_017012276.2:c.-419C>T	XP_016867765.1:n.-419C>T
XM_017012278.1:c.-383C>T	XP_016867767.1:n.-383C>T
XM_017012279.2:c.-383C>T	XP_016867768.1:n.-383C>T
XM_017012280.2:c.-380C>T	XP_016867769.1:n.-380C>T
XM_017012281.2:c.-406C>T	XP_016867770.1:n.-406C>T
XM_024446786.1:c.199C>T	XP_024302554.1:p.Gln67Ter
XM_024446787.1:c.-419C>T	XP_024302555.1:n.-419C>T
XM_024446788.1:c.-419C>T	XP_024302556.1:n.-419C>T
XM_024446789.1:c.-419C>T	XP_024302557.1:n.-419C>T
NM_016203.4:c.331C>T MANE Select	NP_057287.2:p.Gln111Ter
NM_001040633.2:c.199C>T	NP_001035723.1:p.Gln67Ter