Canonical Allele Identifier: CA370070945

Gene: PRKAG2

Linked Data

• dbSNP Id: rs1806102539
• gnomAD v3: 7-151565762-C-T
• gnomAD v4: 7-151565762-C-T
• MyVariant Identifiers: chr7:g.151262848C>T (hg19) ; chr7:g.151565762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151565762C>T , CM000669.2:g.151565762C>T	GRCh38
NC_000007.13:g.151262848C>T , CM000669.1:g.151262848C>T	GRCh37
NC_000007.12:g.150893781C>T	NCBI36
NG_007486.1:g.316469G>A
NG_007486.2:g.316470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*93G>A	ENSP00000420645.3:n.*93G>A
ENST00000652321.2:c.1354G>A	ENSP00000498886.2:p.Val452Met
ENST00000287878.9:c.1357G>A MANE Select	ENSP00000287878.3:p.Val453Met
ENST00000476632.2:c.634G>A	ENSP00000419493.2:p.Val212Met
ENST00000478989.6:c.458G>A
ENST00000492843.6:c.982G>A	ENSP00000419577.2:p.Val328Met
ENST00000650851.1:n.851G>A
ENST00000650858.1:c.574G>A	ENSP00000498384.1:p.Val192Met
ENST00000650948.1:n.2286G>A
ENST00000651188.1:c.*470G>A	ENSP00000498557.1:n.*470G>A
ENST00000651303.1:c.*676G>A	ENSP00000498428.1:n.*676G>A
ENST00000651378.1:c.634G>A	ENSP00000499103.1:p.Val212Met
ENST00000651764.1:c.1225G>A	ENSP00000498796.1:p.Val409Met
ENST00000651836.1:c.1211G>A	ENSP00000499156.1:n.1211G>A
ENST00000651954.1:n.1573G>A
ENST00000652047.1:c.1222G>A	ENSP00000499111.1:p.Val408Met
ENST00000652136.1:n.1904G>A
ENST00000652159.1:c.1225G>A	ENSP00000499025.1:p.Val409Met
ENST00000652397.1:c.*93G>A	ENSP00000498351.1:n.*93G>A
ENST00000287878.8:c.1357G>A	ENSP00000287878.3:p.Val453Met
ENST00000392801.6:c.1225G>A	ENSP00000376549.2:p.Val409Met
ENST00000418337.6:c.634G>A	ENSP00000387386.2:p.Val212Met
ENST00000478989.5:c.*93G>A	ENSP00000420645.1:n.*93G>A
ENST00000492843.5:c.985G>A	ENSP00000419577.1:p.Val329Met
NM_001040633.1:c.1225G>A	NP_001035723.1:p.Val409Met
NM_001304527.1:c.982G>A	NP_001291456.1:p.Val328Met
NM_001304531.1:c.634G>A	NP_001291460.1:p.Val212Met
NM_016203.3:c.1357G>A	NP_057287.2:p.Val453Met
NM_024429.1:c.634G>A	NP_077747.1:p.Val212Met
XM_005250002.2:c.1357G>A	XP_005250059.1:p.Val453Met
XM_005250004.2:c.1225G>A	XP_005250061.1:p.Val409Met
XM_005250006.3:c.985G>A	XP_005250063.1:p.Val329Met
XM_006716021.2:c.1345G>A	XP_006716084.1:p.Val449Met
XM_011516282.1:c.1342G>A	XP_011514584.1:p.Val448Met
XM_011516283.1:c.1345G>A	XP_011514585.1:p.Val449Met
XM_011516284.1:c.1342G>A	XP_011514586.1:p.Val448Met
XM_011516285.1:c.634G>A	XP_011514587.1:p.Val212Met
XM_011516286.1:c.610G>A	XP_011514588.1:p.Val204Met
XM_011516287.1:c.574G>A	XP_011514589.1:p.Val192Met
NM_001363698.1:c.985G>A	NP_001350627.1:p.Val329Met
XM_005250002.4:c.1357G>A	XP_005250059.1:p.Val453Met
XM_005250004.4:c.1225G>A	XP_005250061.1:p.Val409Met
XM_005250006.5:c.985G>A	XP_005250063.1:p.Val329Met
XM_011516285.2:c.634G>A	XP_011514587.1:p.Val212Met
XM_011516286.2:c.610G>A	XP_011514588.1:p.Val204Met
XM_017012268.2:c.1222G>A	XP_016867757.1:p.Val408Met
XM_017012269.1:c.1354G>A	XP_016867758.1:p.Val452Met
XM_017012270.1:c.1225G>A	XP_016867759.1:p.Val409Met
XM_017012271.2:c.1222G>A	XP_016867760.1:p.Val408Met
XM_017012272.1:c.1222G>A	XP_016867761.1:p.Val408Met
XM_017012274.2:c.631G>A	XP_016867763.1:p.Val211Met
XM_017012275.2:c.574G>A	XP_016867764.1:p.Val192Met
XM_017012276.2:c.631G>A	XP_016867765.1:p.Val211Met
XM_017012277.2:c.610G>A	XP_016867766.1:p.Val204Met
XM_017012278.1:c.574G>A	XP_016867767.1:p.Val192Met
XM_017012279.2:c.574G>A	XP_016867768.1:p.Val192Met
XM_017012280.2:c.574G>A	XP_016867769.1:p.Val192Met
XM_017012281.2:c.574G>A	XP_016867770.1:p.Val192Met
XM_024446786.1:c.1225G>A	XP_024302554.1:p.Val409Met
XM_024446787.1:c.634G>A	XP_024302555.1:p.Val212Met
XM_024446788.1:c.631G>A	XP_024302556.1:p.Val211Met
XM_024446789.1:c.634G>A	XP_024302557.1:p.Val212Met
NM_016203.4:c.1357G>A MANE Select	NP_057287.2:p.Val453Met
NM_001040633.2:c.1225G>A	NP_001035723.1:p.Val409Met
NM_001304527.2:c.982G>A	NP_001291456.1:p.Val328Met
NM_001304531.2:c.634G>A	NP_001291460.1:p.Val212Met
NM_001363698.2:c.985G>A	NP_001350627.1:p.Val329Met
NM_024429.2:c.634G>A	NP_077747.1:p.Val212Met