Canonical Allele Identifier: CA370072527

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151576449-T-A
• COSMIC: COSM1728329 ; COSM1728330
• MyVariant Identifiers: chr7:g.151273535T>A (hg19) ; chr7:g.151576449T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151576449T>A , CM000669.2:g.151576449T>A	GRCh38
NC_000007.13:g.151273535T>A , CM000669.1:g.151273535T>A	GRCh37
NC_000007.12:g.150904468T>A	NCBI36
NG_007486.1:g.305782A>T
NG_007486.2:g.305783A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.142A>T	ENSP00000420645.3:p.Lys48Ter
ENST00000652321.2:c.865A>T	ENSP00000498886.2:p.Lys289Ter
ENST00000287878.9:c.868A>T MANE Select	ENSP00000287878.3:p.Lys290Ter
ENST00000476632.2:c.145A>T	ENSP00000419493.2:p.Lys49Ter
ENST00000491938.6:n.211A>T
ENST00000492843.6:c.493A>T	ENSP00000419577.2:p.Lys165Ter
ENST00000650851.1:n.362A>T
ENST00000650858.1:c.85A>T	ENSP00000498384.1:p.Lys29Ter
ENST00000650948.1:n.983A>T
ENST00000651188.1:c.*108A>T	ENSP00000498557.1:n.*108A>T
ENST00000651290.1:n.70A>T
ENST00000651303.1:c.*187A>T	ENSP00000498428.1:n.*187A>T
ENST00000651378.1:c.145A>T	ENSP00000499103.1:p.Lys49Ter
ENST00000651764.1:c.736A>T	ENSP00000498796.1:p.Lys246Ter
ENST00000651836.1:c.636A>T	ENSP00000499156.1:n.636A>T
ENST00000652047.1:c.733A>T	ENSP00000499111.1:p.Lys245Ter
ENST00000652136.1:n.601A>T
ENST00000652159.1:c.736A>T	ENSP00000499025.1:p.Lys246Ter
ENST00000652397.1:c.145A>T	ENSP00000498351.1:p.Lys49Ter
ENST00000652572.1:n.249A>T
ENST00000287878.8:c.868A>T	ENSP00000287878.3:p.Lys290Ter
ENST00000392801.6:c.736A>T	ENSP00000376549.2:p.Lys246Ter
ENST00000418337.6:c.145A>T	ENSP00000387386.2:p.Lys49Ter
ENST00000476632.1:c.145A>T	ENSP00000419493.1:p.Lys49Ter
ENST00000483775.1:n.273A>T
ENST00000488258.5:c.*108A>T	ENSP00000420783.1:n.*108A>T
ENST00000491938.5:n.214A>T
ENST00000492843.5:c.496A>T	ENSP00000419577.1:p.Lys166Ter
ENST00000493872.5:c.*117A>T	ENSP00000417252.1:n.*117A>T
NM_001040633.1:c.736A>T	NP_001035723.1:p.Lys246Ter
NM_001304527.1:c.493A>T	NP_001291456.1:p.Lys165Ter
NM_001304531.1:c.145A>T	NP_001291460.1:p.Lys49Ter
NM_016203.3:c.868A>T	NP_057287.2:p.Lys290Ter
NM_024429.1:c.145A>T	NP_077747.1:p.Lys49Ter
XM_005250002.2:c.868A>T	XP_005250059.1:p.Lys290Ter
XM_005250004.2:c.736A>T	XP_005250061.1:p.Lys246Ter
XM_005250006.3:c.496A>T	XP_005250063.1:p.Lys166Ter
XM_006716021.2:c.856A>T	XP_006716084.1:p.Lys286Ter
XM_011516282.1:c.853A>T	XP_011514584.1:p.Lys285Ter
XM_011516283.1:c.856A>T	XP_011514585.1:p.Lys286Ter
XM_011516284.1:c.853A>T	XP_011514586.1:p.Lys285Ter
XM_011516285.1:c.145A>T	XP_011514587.1:p.Lys49Ter
XM_011516286.1:c.121A>T	XP_011514588.1:p.Lys41Ter
XM_011516287.1:c.85A>T	XP_011514589.1:p.Lys29Ter
NM_001363698.1:c.496A>T	NP_001350627.1:p.Lys166Ter
XM_005250002.4:c.868A>T	XP_005250059.1:p.Lys290Ter
XM_005250004.4:c.736A>T	XP_005250061.1:p.Lys246Ter
XM_005250006.5:c.496A>T	XP_005250063.1:p.Lys166Ter
XM_011516285.2:c.145A>T	XP_011514587.1:p.Lys49Ter
XM_011516286.2:c.121A>T	XP_011514588.1:p.Lys41Ter
XM_017012268.2:c.733A>T	XP_016867757.1:p.Lys245Ter
XM_017012269.1:c.865A>T	XP_016867758.1:p.Lys289Ter
XM_017012270.1:c.736A>T	XP_016867759.1:p.Lys246Ter
XM_017012271.2:c.733A>T	XP_016867760.1:p.Lys245Ter
XM_017012272.1:c.733A>T	XP_016867761.1:p.Lys245Ter
XM_017012274.2:c.142A>T	XP_016867763.1:p.Lys48Ter
XM_017012275.2:c.85A>T	XP_016867764.1:p.Lys29Ter
XM_017012276.2:c.142A>T	XP_016867765.1:p.Lys48Ter
XM_017012277.2:c.121A>T	XP_016867766.1:p.Lys41Ter
XM_017012278.1:c.85A>T	XP_016867767.1:p.Lys29Ter
XM_017012279.2:c.85A>T	XP_016867768.1:p.Lys29Ter
XM_017012280.2:c.85A>T	XP_016867769.1:p.Lys29Ter
XM_017012281.2:c.85A>T	XP_016867770.1:p.Lys29Ter
XM_024446786.1:c.736A>T	XP_024302554.1:p.Lys246Ter
XM_024446787.1:c.145A>T	XP_024302555.1:p.Lys49Ter
XM_024446788.1:c.142A>T	XP_024302556.1:p.Lys48Ter
XM_024446789.1:c.145A>T	XP_024302557.1:p.Lys49Ter
NM_016203.4:c.868A>T MANE Select	NP_057287.2:p.Lys290Ter
NM_001040633.2:c.736A>T	NP_001035723.1:p.Lys246Ter
NM_001304527.2:c.493A>T	NP_001291456.1:p.Lys165Ter
NM_001304531.2:c.145A>T	NP_001291460.1:p.Lys49Ter
NM_001363698.2:c.496A>T	NP_001350627.1:p.Lys166Ter
NM_024429.2:c.145A>T	NP_077747.1:p.Lys49Ter