Canonical Allele Identifier: CA12488987
Gene: PRKAG2 HGNC NCBI

Linked Data

dbSNP Id: rs10480300
gnomAD v2: 7-151406005-C-T
gnomAD v3: 7-151708919-C-T
gnomAD v4: 7-151708919-C-T
MyVariant Identifiers: chr7:g.151406005C>T (hg19) chr7:g.151708919C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151708919C>T , CM000669.2:g.151708919C>T GRCh38
NC_000007.13:g.151406005C>T , CM000669.1:g.151406005C>T GRCh37
NC_000007.12:g.151036938C>T NCBI36
NG_007486.1:g.173312G>A
NG_007486.2:g.173313G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000652321.2:c.467-33282G>A ENSP00000498886.2:n.467-33282G>A
ENST00000287878.9:c.467-33282G>A MANE Select ENSP00000287878.3:n.467-33282G>A
ENST00000487375.2:n.343+25329G>A
ENST00000492843.6:c.94+26981G>A ENSP00000419577.2:n.94+26981G>A
ENST00000650858.1:c.-247-33282G>A ENSP00000498384.1:n.-247-33282G>A
ENST00000650948.1:n.582-33282G>A
ENST00000651188.1:c.335-33282G>A ENSP00000498557.1:n.335-33282G>A
ENST00000651303.1:c.335-33282G>A ENSP00000498428.1:n.335-33282G>A
ENST00000651378.1:c.-257-33282G>A ENSP00000499103.1:n.-257-33282G>A
ENST00000651764.1:c.335-33282G>A ENSP00000498796.1:n.335-33282G>A
ENST00000651836.1:c.238-33282G>A ENSP00000499156.1:n.238-33282G>A
ENST00000652047.1:c.335-33282G>A ENSP00000499111.1:n.335-33282G>A
ENST00000652136.1:n.203-33282G>A
ENST00000652159.1:c.335-33282G>A ENSP00000499025.1:n.335-33282G>A
ENST00000652321.1:c.467-33282G>A ENSP00000498886.1:n.467-33282G>A
ENST00000652707.1:c.335-33282G>A ENSP00000498954.1:n.335-33282G>A
ENST00000287878.8:c.467-33282G>A ENSP00000287878.3:n.467-33282G>A
ENST00000392801.6:c.335-33282G>A ENSP00000376549.2:n.335-33282G>A
ENST00000461529.1:n.486-33282G>A
ENST00000481434.5:n.972-33282G>A
ENST00000487375.1:n.343+25329G>A
ENST00000488258.5:c.467-33282G>A ENSP00000420783.1:n.467-33282G>A
ENST00000492843.5:c.94+26981G>A ENSP00000419577.1:n.94+26981G>A
NM_001040633.1:c.335-33282G>A NP_001035723.1:n.335-33282G>A
NM_001304527.1:c.94+26981G>A NP_001291456.1:n.94+26981G>A
NM_016203.3:c.467-33282G>A NP_057287.2:n.467-33282G>A
XM_005250002.2:c.467-33282G>A XP_005250059.1:n.467-33282G>A
XM_005250004.2:c.335-33282G>A XP_005250061.1:n.335-33282G>A
XM_005250006.3:c.94+26981G>A XP_005250063.1:n.94+26981G>A
XM_006716021.2:c.455-33282G>A XP_006716084.1:n.455-33282G>A
XM_011516282.1:c.455-33282G>A XP_011514584.1:n.455-33282G>A
XM_011516283.1:c.455-33282G>A XP_011514585.1:n.455-33282G>A
XM_011516284.1:c.455-33282G>A XP_011514586.1:n.455-33282G>A
XM_011516287.1:c.-247-33282G>A XP_011514589.1:n.-247-33282G>A
NM_001363698.1:c.94+26981G>A NP_001350627.1:n.94+26981G>A
XM_005250002.4:c.467-33282G>A XP_005250059.1:n.467-33282G>A
XM_005250004.4:c.335-33282G>A XP_005250061.1:n.335-33282G>A
XM_005250006.5:c.94+26981G>A XP_005250063.1:n.94+26981G>A
XM_017012268.2:c.335-33282G>A XP_016867757.1:n.335-33282G>A
XM_017012269.1:c.467-33282G>A XP_016867758.1:n.467-33282G>A
XM_017012270.1:c.335-33282G>A XP_016867759.1:n.335-33282G>A
XM_017012271.2:c.335-33282G>A XP_016867760.1:n.335-33282G>A
XM_017012272.1:c.335-33282G>A XP_016867761.1:n.335-33282G>A
XM_017012275.2:c.-244-33282G>A XP_016867764.1:n.-244-33282G>A
XM_017012276.2:c.-257-33282G>A XP_016867765.1:n.-257-33282G>A
XM_017012278.1:c.-247-33282G>A XP_016867767.1:n.-247-33282G>A
XM_017012279.2:c.-247-33282G>A XP_016867768.1:n.-247-33282G>A
XM_017012280.2:c.-244-33282G>A XP_016867769.1:n.-244-33282G>A
XM_017012281.2:c.-244-33282G>A XP_016867770.1:n.-244-33282G>A
XM_024446786.1:c.335-33282G>A XP_024302554.1:n.335-33282G>A
XM_024446787.1:c.-257-33282G>A XP_024302555.1:n.-257-33282G>A
XM_024446788.1:c.-257-33282G>A XP_024302556.1:n.-257-33282G>A
XM_024446789.1:c.-257-33282G>A XP_024302557.1:n.-257-33282G>A
NM_016203.4:c.467-33282G>A MANE Select NP_057287.2:n.467-33282G>A
NM_001040633.2:c.335-33282G>A NP_001035723.1:n.335-33282G>A
NM_001304527.2:c.94+26981G>A NP_001291456.1:n.94+26981G>A
NM_001363698.2:c.94+26981G>A NP_001350627.1:n.94+26981G>A
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