Canonical Allele Identifier: CA056408

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 1249336
• ClinVar RCV Id: RCV001656857
• dbSNP Id: rs775535324
• ExAC: 7:151254269 C / T
• gnomAD v2: 7-151254269-C-T
• gnomAD v3: 7-151557183-C-T
• gnomAD v4: 7-151557183-C-T
• MyVariant Identifiers: chr7:g.151254269C>T (hg19) ; chr7:g.151557183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151557183C>T , CM000669.2:g.151557183C>T	GRCh38
NC_000007.13:g.151254269C>T , CM000669.1:g.151254269C>T	GRCh37
NC_000007.12:g.150885202C>T	NCBI36
NG_007486.1:g.325048G>A
NG_007486.2:g.325049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.*464G>A	ENSP00000420645.3:n.*464G>A
ENST00000652321.2:c.*18G>A	ENSP00000498886.2:n.*18G>A
ENST00000287878.9:c.*18G>A MANE Select	ENSP00000287878.3:n.*18G>A
ENST00000476632.2:c.*18G>A	ENSP00000419493.2:n.*18G>A
ENST00000492843.6:c.*18G>A	ENSP00000419577.2:n.*18G>A
ENST00000650664.1:n.1443G>A
ENST00000650851.1:n.1222G>A
ENST00000650858.1:c.*18G>A	ENSP00000498384.1:n.*18G>A
ENST00000650948.1:n.4114G>A
ENST00000651188.1:c.*841G>A	ENSP00000498557.1:n.*841G>A
ENST00000651303.1:c.*1047G>A	ENSP00000498428.1:n.*1047G>A
ENST00000651378.1:c.*18G>A	ENSP00000499103.1:n.*18G>A
ENST00000651764.1:c.*18G>A	ENSP00000498796.1:n.*18G>A
ENST00000651836.1:c.1918G>A	ENSP00000499156.1:n.1918G>A
ENST00000651954.1:n.1944G>A
ENST00000652047.1:c.*18G>A	ENSP00000499111.1:n.*18G>A
ENST00000652136.1:n.2275G>A
ENST00000652159.1:c.*18G>A	ENSP00000499025.1:n.*18G>A
ENST00000652397.1:c.*464G>A	ENSP00000498351.1:n.*464G>A
ENST00000287878.8:c.*18G>A	ENSP00000287878.3:n.*18G>A
ENST00000392801.6:c.*18G>A	ENSP00000376549.2:n.*18G>A
ENST00000418337.6:c.*18G>A	ENSP00000387386.2:n.*18G>A
ENST00000479461.1:n.380G>A
ENST00000492843.5:c.*18G>A	ENSP00000419577.1:n.*18G>A
NM_001040633.1:c.*18G>A	NP_001035723.1:n.*18G>A
NM_001304527.1:c.*18G>A	NP_001291456.1:n.*18G>A
NM_001304531.1:c.*18G>A	NP_001291460.1:n.*18G>A
NM_016203.3:c.*18G>A	NP_057287.2:n.*18G>A
NM_024429.1:c.*18G>A	NP_077747.1:n.*18G>A
XM_005250002.2:c.*3159G>A	XP_005250059.1:n.*3159G>A
XM_005250004.2:c.*3159G>A	XP_005250061.1:n.*3159G>A
XM_005250006.3:c.*3159G>A	XP_005250063.1:n.*3159G>A
XM_006716021.2:c.*3159G>A	XP_006716084.1:n.*3159G>A
XM_011516282.1:c.*3159G>A	XP_011514584.1:n.*3159G>A
XM_011516283.1:c.*18G>A	XP_011514585.1:n.*18G>A
XM_011516284.1:c.*18G>A	XP_011514586.1:n.*18G>A
XM_011516285.1:c.*3159G>A	XP_011514587.1:n.*3159G>A
XM_011516286.1:c.*3159G>A	XP_011514588.1:n.*3159G>A
XM_011516287.1:c.*3159G>A	XP_011514589.1:n.*3159G>A
NM_001363698.1:c.*18G>A	NP_001350627.1:n.*18G>A
XM_005250002.4:c.*3159G>A	XP_005250059.1:n.*3159G>A
XM_005250004.4:c.*3159G>A	XP_005250061.1:n.*3159G>A
XM_005250006.5:c.*3159G>A	XP_005250063.1:n.*3159G>A
XM_011516285.2:c.*3159G>A	XP_011514587.1:n.*3159G>A
XM_011516286.2:c.*3159G>A	XP_011514588.1:n.*3159G>A
XM_017012268.2:c.*3159G>A	XP_016867757.1:n.*3159G>A
XM_017012269.1:c.*18G>A	XP_016867758.1:n.*18G>A
XM_017012270.1:c.*18G>A	XP_016867759.1:n.*18G>A
XM_017012271.2:c.*18G>A	XP_016867760.1:n.*18G>A
XM_017012272.1:c.*18G>A	XP_016867761.1:n.*18G>A
XM_017012274.2:c.*3159G>A	XP_016867763.1:n.*3159G>A
XM_017012275.2:c.*3159G>A	XP_016867764.1:n.*3159G>A
XM_017012276.2:c.*18G>A	XP_016867765.1:n.*18G>A
XM_017012277.2:c.*18G>A	XP_016867766.1:n.*18G>A
XM_017012278.1:c.*18G>A	XP_016867767.1:n.*18G>A
XM_017012279.2:c.*18G>A	XP_016867768.1:n.*18G>A
XM_017012280.2:c.*18G>A	XP_016867769.1:n.*18G>A
XM_017012281.2:c.*18G>A	XP_016867770.1:n.*18G>A
XM_024446786.1:c.*3159G>A	XP_024302554.1:n.*3159G>A
XM_024446787.1:c.*3159G>A	XP_024302555.1:n.*3159G>A
XM_024446788.1:c.*3159G>A	XP_024302556.1:n.*3159G>A
XM_024446789.1:c.*18G>A	XP_024302557.1:n.*18G>A
NM_016203.4:c.*18G>A MANE Select	NP_057287.2:n.*18G>A
NM_001040633.2:c.*18G>A	NP_001035723.1:n.*18G>A
NM_001304527.2:c.*18G>A	NP_001291456.1:n.*18G>A
NM_001304531.2:c.*18G>A	NP_001291460.1:n.*18G>A
NM_001363698.2:c.*18G>A	NP_001350627.1:n.*18G>A
NM_024429.2:c.*18G>A	NP_077747.1:n.*18G>A