Canonical Allele Identifier: CA2685699983

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151568798-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151568801_151568802del , CM000669.2:g.151568801_151568802del	GRCh38
NC_000007.13:g.151265887_151265888del , CM000669.1:g.151265887_151265888del	GRCh37
NC_000007.12:g.150896820_150896821del	NCBI36
NG_007486.1:g.313431_313432del
NG_007486.2:g.313432_313433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.423_424del	ENSP00000420645.3:p.His141GlnfsTer6
ENST00000652321.2:c.1146_1147del	ENSP00000498886.2:p.His382GlnfsTer6
ENST00000287878.9:c.1149_1150del MANE Select	ENSP00000287878.3:p.His383GlnfsTer6
ENST00000476632.2:c.426_427del	ENSP00000419493.2:p.His142GlnfsTer6
ENST00000478989.6:c.209_210del
ENST00000492843.6:c.774_775del	ENSP00000419577.2:p.His258GlnfsTer6
ENST00000650851.1:n.643_644del
ENST00000650858.1:c.366_367del	ENSP00000498384.1:p.His122GlnfsTer6
ENST00000650948.1:n.1264_1265del
ENST00000651188.1:c.*346+1371_*346+1372del	ENSP00000498557.1:n.*346+1371_*346+1372del
ENST00000651303.1:c.*468_*469del	ENSP00000498428.1:n.*468_*469del
ENST00000651378.1:c.426_427del	ENSP00000499103.1:p.His142GlnfsTer6
ENST00000651764.1:c.1017_1018del	ENSP00000498796.1:p.His339GlnfsTer6
ENST00000651836.1:c.917_918del	ENSP00000499156.1:n.917_918del
ENST00000652047.1:c.1014_1015del	ENSP00000499111.1:p.His338GlnfsTer6
ENST00000652136.1:n.882_883del
ENST00000652159.1:c.1017_1018del	ENSP00000499025.1:p.His339GlnfsTer6
ENST00000652397.1:c.426_427del	ENSP00000498351.1:p.His142GlnfsTer6
ENST00000287878.8:c.1149_1150del	ENSP00000287878.3:p.His383GlnfsTer6
ENST00000392801.6:c.1017_1018del	ENSP00000376549.2:p.His339GlnfsTer6
ENST00000418337.6:c.426_427del	ENSP00000387386.2:p.His142GlnfsTer6
ENST00000476632.1:c.426_427del	ENSP00000419493.1:p.His142GlnfsTer6
ENST00000478989.5:c.201_202del	ENSP00000420645.1:p.His67GlnfsTer6
ENST00000488258.5:c.*389_*390del	ENSP00000420783.1:n.*389_*390del
ENST00000492843.5:c.777_778del	ENSP00000419577.1:p.His259GlnfsTer6
NM_001040633.1:c.1017_1018del	NP_001035723.1:p.His339GlnfsTer6
NM_001304527.1:c.774_775del	NP_001291456.1:p.His258GlnfsTer6
NM_001304531.1:c.426_427del	NP_001291460.1:p.His142GlnfsTer6
NM_016203.3:c.1149_1150del	NP_057287.2:p.His383GlnfsTer6
NM_024429.1:c.426_427del	NP_077747.1:p.His142GlnfsTer6
XM_005250002.2:c.1149_1150del	XP_005250059.1:p.His383GlnfsTer6
XM_005250004.2:c.1017_1018del	XP_005250061.1:p.His339GlnfsTer6
XM_005250006.3:c.777_778del	XP_005250063.1:p.His259GlnfsTer6
XM_006716021.2:c.1137_1138del	XP_006716084.1:p.His379GlnfsTer6
XM_011516282.1:c.1134_1135del	XP_011514584.1:p.His378GlnfsTer6
XM_011516283.1:c.1137_1138del	XP_011514585.1:p.His379GlnfsTer6
XM_011516284.1:c.1134_1135del	XP_011514586.1:p.His378GlnfsTer6
XM_011516285.1:c.426_427del	XP_011514587.1:p.His142GlnfsTer6
XM_011516286.1:c.402_403del	XP_011514588.1:p.His134GlnfsTer6
XM_011516287.1:c.366_367del	XP_011514589.1:p.His122GlnfsTer6
NM_001363698.1:c.777_778del	NP_001350627.1:p.His259GlnfsTer6
XM_005250002.4:c.1149_1150del	XP_005250059.1:p.His383GlnfsTer6
XM_005250004.4:c.1017_1018del	XP_005250061.1:p.His339GlnfsTer6
XM_005250006.5:c.777_778del	XP_005250063.1:p.His259GlnfsTer6
XM_011516285.2:c.426_427del	XP_011514587.1:p.His142GlnfsTer6
XM_011516286.2:c.402_403del	XP_011514588.1:p.His134GlnfsTer6
XM_017012268.2:c.1014_1015del	XP_016867757.1:p.His338GlnfsTer6
XM_017012269.1:c.1146_1147del	XP_016867758.1:p.His382GlnfsTer6
XM_017012270.1:c.1017_1018del	XP_016867759.1:p.His339GlnfsTer6
XM_017012271.2:c.1014_1015del	XP_016867760.1:p.His338GlnfsTer6
XM_017012272.1:c.1014_1015del	XP_016867761.1:p.His338GlnfsTer6
XM_017012274.2:c.423_424del	XP_016867763.1:p.His141GlnfsTer6
XM_017012275.2:c.366_367del	XP_016867764.1:p.His122GlnfsTer6
XM_017012276.2:c.423_424del	XP_016867765.1:p.His141GlnfsTer6
XM_017012277.2:c.402_403del	XP_016867766.1:p.His134GlnfsTer6
XM_017012278.1:c.366_367del	XP_016867767.1:p.His122GlnfsTer6
XM_017012279.2:c.366_367del	XP_016867768.1:p.His122GlnfsTer6
XM_017012280.2:c.366_367del	XP_016867769.1:p.His122GlnfsTer6
XM_017012281.2:c.366_367del	XP_016867770.1:p.His122GlnfsTer6
XM_024446786.1:c.1017_1018del	XP_024302554.1:p.His339GlnfsTer6
XM_024446787.1:c.426_427del	XP_024302555.1:p.His142GlnfsTer6
XM_024446788.1:c.423_424del	XP_024302556.1:p.His141GlnfsTer6
XM_024446789.1:c.426_427del	XP_024302557.1:p.His142GlnfsTer6
NM_016203.4:c.1149_1150del MANE Select	NP_057287.2:p.His383GlnfsTer6
NM_001040633.2:c.1017_1018del	NP_001035723.1:p.His339GlnfsTer6
NM_001304527.2:c.774_775del	NP_001291456.1:p.His258GlnfsTer6
NM_001304531.2:c.426_427del	NP_001291460.1:p.His142GlnfsTer6
NM_001363698.2:c.777_778del	NP_001350627.1:p.His259GlnfsTer6
NM_024429.2:c.426_427del	NP_077747.1:p.His142GlnfsTer6