Canonical Allele Identifier: CA056676

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 695734
• ClinVar RCV Id: RCV000861623 ; RCV001177355
• dbSNP Id: rs767950372
• ExAC: 7:151478407 G / A
• gnomAD v2: 7-151478407-G-A
• gnomAD v3: 7-151781321-G-A
• gnomAD v4: 7-151781321-G-A
• MyVariant Identifiers: chr7:g.151478407G>A (hg19) ; chr7:g.151781321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151781321G>A , CM000669.2:g.151781321G>A	GRCh38
NC_000007.13:g.151478407G>A , CM000669.1:g.151478407G>A	GRCh37
NC_000007.12:g.151109340G>A	NCBI36
NG_007486.1:g.100910C>T
NG_007486.2:g.100911C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000652321.2:c.297C>T	ENSP00000498886.2:p.Pro99=
ENST00000287878.9:c.297C>T MANE Select	ENSP00000287878.3:p.Pro99=
ENST00000650858.1:c.-248+33095C>T	ENSP00000498384.1:n.-248+33095C>T
ENST00000650948.1:n.412C>T
ENST00000651188.1:c.165C>T	ENSP00000498557.1:p.Pro55=
ENST00000651303.1:c.165C>T	ENSP00000498428.1:p.Pro55=
ENST00000651378.1:c.-258+33095C>T	ENSP00000499103.1:n.-258+33095C>T
ENST00000651764.1:c.165C>T	ENSP00000498796.1:p.Pro55=
ENST00000651836.1:c.42C>T	ENSP00000499156.1:p.Pro14=
ENST00000652047.1:c.165C>T	ENSP00000499111.1:p.Pro55=
ENST00000652136.1:n.33C>T
ENST00000652159.1:c.165C>T	ENSP00000499025.1:p.Pro55=
ENST00000652321.1:c.297C>T	ENSP00000498886.1:p.Pro99=
ENST00000652707.1:c.165C>T	ENSP00000498954.1:p.Pro55=
ENST00000652714.1:n.470C>T
ENST00000287878.8:c.297C>T	ENSP00000287878.3:p.Pro99=
ENST00000392801.6:c.165C>T	ENSP00000376549.2:p.Pro55=
ENST00000461529.1:n.316C>T
ENST00000481434.5:n.802C>T
ENST00000488258.5:c.297C>T	ENSP00000420783.1:p.Pro99=
NM_001040633.1:c.165C>T	NP_001035723.1:p.Pro55=
NM_016203.3:c.297C>T	NP_057287.2:p.Pro99=
XM_005250002.2:c.297C>T	XP_005250059.1:p.Pro99=
XM_005250004.2:c.165C>T	XP_005250061.1:p.Pro55=
XM_006716021.2:c.285C>T	XP_006716084.1:p.Pro95=
XM_011516282.1:c.285C>T	XP_011514584.1:p.Pro95=
XM_011516283.1:c.285C>T	XP_011514585.1:p.Pro95=
XM_011516284.1:c.285C>T	XP_011514586.1:p.Pro95=
XM_011516287.1:c.-417C>T	XP_011514589.1:n.-417C>T
XM_005250002.4:c.297C>T	XP_005250059.1:p.Pro99=
XM_005250004.4:c.165C>T	XP_005250061.1:p.Pro55=
XM_017012268.2:c.165C>T	XP_016867757.1:p.Pro55=
XM_017012269.1:c.297C>T	XP_016867758.1:p.Pro99=
XM_017012270.1:c.165C>T	XP_016867759.1:p.Pro55=
XM_017012271.2:c.165C>T	XP_016867760.1:p.Pro55=
XM_017012272.1:c.165C>T	XP_016867761.1:p.Pro55=
XM_017012275.2:c.-414C>T	XP_016867764.1:n.-414C>T
XM_017012276.2:c.-453C>T	XP_016867765.1:n.-453C>T
XM_017012278.1:c.-417C>T	XP_016867767.1:n.-417C>T
XM_017012279.2:c.-417C>T	XP_016867768.1:n.-417C>T
XM_017012280.2:c.-414C>T	XP_016867769.1:n.-414C>T
XM_017012281.2:c.-440C>T	XP_016867770.1:n.-440C>T
XM_024446786.1:c.165C>T	XP_024302554.1:p.Pro55=
XM_024446787.1:c.-453C>T	XP_024302555.1:n.-453C>T
XM_024446788.1:c.-453C>T	XP_024302556.1:n.-453C>T
XM_024446789.1:c.-453C>T	XP_024302557.1:n.-453C>T
NM_016203.4:c.297C>T MANE Select	NP_057287.2:p.Pro99=
NM_001040633.2:c.165C>T	NP_001035723.1:p.Pro55=