Canonical Allele Identifier: CA578732543

Gene: PRKAG2

Linked Data

• dbSNP Id: rs1219881161
• gnomAD v2: 7-151265397-TGGAACA-T
• MyVariant Identifiers: chr7:g.151265398_151265403del (hg19) ; chr7:g.151568312_151568317del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151568312_151568317del , CM000669.2:g.151568312_151568317del	GRCh38
NC_000007.13:g.151265398_151265403del , CM000669.1:g.151265398_151265403del	GRCh37
NC_000007.12:g.150896331_150896336del	NCBI36
NG_007486.1:g.313914_313919del
NG_007486.2:g.313915_313920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.507+399_507+404del	ENSP00000420645.3:n.507+399_507+404del
ENST00000652321.2:c.1230+399_1230+404del	ENSP00000498886.2:n.1230+399_1230+404del
ENST00000287878.9:c.1233+399_1233+404del MANE Select	ENSP00000287878.3:n.1233+399_1233+404del
ENST00000476632.2:c.510+399_510+404del	ENSP00000419493.2:n.510+399_510+404del
ENST00000478989.6:c.293+399_293+404del
ENST00000492843.6:c.858+399_858+404del	ENSP00000419577.2:n.858+399_858+404del
ENST00000650851.1:n.727+399_727+404del
ENST00000650858.1:c.450+399_450+404del	ENSP00000498384.1:n.450+399_450+404del
ENST00000650948.1:n.1348+399_1348+404del
ENST00000651188.1:c.*346+1854_*346+1859del	ENSP00000498557.1:n.*346+1854_*346+1859del
ENST00000651303.1:c.*552+399_*552+404del	ENSP00000498428.1:n.*552+399_*552+404del
ENST00000651378.1:c.510+399_510+404del	ENSP00000499103.1:n.510+399_510+404del
ENST00000651764.1:c.1101+399_1101+404del	ENSP00000498796.1:n.1101+399_1101+404del
ENST00000651836.1:c.1001+399_1001+404del	ENSP00000499156.1:n.1001+399_1001+404del
ENST00000652047.1:c.1098+399_1098+404del	ENSP00000499111.1:n.1098+399_1098+404del
ENST00000652136.1:n.966+399_966+404del
ENST00000652159.1:c.1101+399_1101+404del	ENSP00000499025.1:n.1101+399_1101+404del
ENST00000652397.1:c.510+399_510+404del	ENSP00000498351.1:n.510+399_510+404del
ENST00000287878.8:c.1233+399_1233+404del	ENSP00000287878.3:n.1233+399_1233+404del
ENST00000392801.6:c.1101+399_1101+404del	ENSP00000376549.2:n.1101+399_1101+404del
ENST00000418337.6:c.510+399_510+404del	ENSP00000387386.2:n.510+399_510+404del
ENST00000478989.5:c.285+399_285+404del	ENSP00000420645.1:n.285+399_285+404del
ENST00000492843.5:c.861+399_861+404del	ENSP00000419577.1:n.861+399_861+404del
NM_001040633.1:c.1101+399_1101+404del	NP_001035723.1:n.1101+399_1101+404del
NM_001304527.1:c.858+399_858+404del	NP_001291456.1:n.858+399_858+404del
NM_001304531.1:c.510+399_510+404del	NP_001291460.1:n.510+399_510+404del
NM_016203.3:c.1233+399_1233+404del	NP_057287.2:n.1233+399_1233+404del
NM_024429.1:c.510+399_510+404del	NP_077747.1:n.510+399_510+404del
XM_005250002.2:c.1233+399_1233+404del	XP_005250059.1:n.1233+399_1233+404del
XM_005250004.2:c.1101+399_1101+404del	XP_005250061.1:n.1101+399_1101+404del
XM_005250006.3:c.861+399_861+404del	XP_005250063.1:n.861+399_861+404del
XM_006716021.2:c.1221+399_1221+404del	XP_006716084.1:n.1221+399_1221+404del
XM_011516282.1:c.1218+399_1218+404del	XP_011514584.1:n.1218+399_1218+404del
XM_011516283.1:c.1221+399_1221+404del	XP_011514585.1:n.1221+399_1221+404del
XM_011516284.1:c.1218+399_1218+404del	XP_011514586.1:n.1218+399_1218+404del
XM_011516285.1:c.510+399_510+404del	XP_011514587.1:n.510+399_510+404del
XM_011516286.1:c.486+399_486+404del	XP_011514588.1:n.486+399_486+404del
XM_011516287.1:c.450+399_450+404del	XP_011514589.1:n.450+399_450+404del
NM_001363698.1:c.861+399_861+404del	NP_001350627.1:n.861+399_861+404del
XM_005250002.4:c.1233+399_1233+404del	XP_005250059.1:n.1233+399_1233+404del
XM_005250004.4:c.1101+399_1101+404del	XP_005250061.1:n.1101+399_1101+404del
XM_005250006.5:c.861+399_861+404del	XP_005250063.1:n.861+399_861+404del
XM_011516285.2:c.510+399_510+404del	XP_011514587.1:n.510+399_510+404del
XM_011516286.2:c.486+399_486+404del	XP_011514588.1:n.486+399_486+404del
XM_017012268.2:c.1098+399_1098+404del	XP_016867757.1:n.1098+399_1098+404del
XM_017012269.1:c.1230+399_1230+404del	XP_016867758.1:n.1230+399_1230+404del
XM_017012270.1:c.1101+399_1101+404del	XP_016867759.1:n.1101+399_1101+404del
XM_017012271.2:c.1098+399_1098+404del	XP_016867760.1:n.1098+399_1098+404del
XM_017012272.1:c.1098+399_1098+404del	XP_016867761.1:n.1098+399_1098+404del
XM_017012274.2:c.507+399_507+404del	XP_016867763.1:n.507+399_507+404del
XM_017012275.2:c.450+399_450+404del	XP_016867764.1:n.450+399_450+404del
XM_017012276.2:c.507+399_507+404del	XP_016867765.1:n.507+399_507+404del
XM_017012277.2:c.486+399_486+404del	XP_016867766.1:n.486+399_486+404del
XM_017012278.1:c.450+399_450+404del	XP_016867767.1:n.450+399_450+404del
XM_017012279.2:c.450+399_450+404del	XP_016867768.1:n.450+399_450+404del
XM_017012280.2:c.450+399_450+404del	XP_016867769.1:n.450+399_450+404del
XM_017012281.2:c.450+399_450+404del	XP_016867770.1:n.450+399_450+404del
XM_024446786.1:c.1101+399_1101+404del	XP_024302554.1:n.1101+399_1101+404del
XM_024446787.1:c.510+399_510+404del	XP_024302555.1:n.510+399_510+404del
XM_024446788.1:c.507+399_507+404del	XP_024302556.1:n.507+399_507+404del
XM_024446789.1:c.510+399_510+404del	XP_024302557.1:n.510+399_510+404del
NM_016203.4:c.1233+399_1233+404del MANE Select	NP_057287.2:n.1233+399_1233+404del
NM_001040633.2:c.1101+399_1101+404del	NP_001035723.1:n.1101+399_1101+404del
NM_001304527.2:c.858+399_858+404del	NP_001291456.1:n.858+399_858+404del
NM_001304531.2:c.510+399_510+404del	NP_001291460.1:n.510+399_510+404del
NM_001363698.2:c.861+399_861+404del	NP_001350627.1:n.861+399_861+404del
NM_024429.2:c.510+399_510+404del	NP_077747.1:n.510+399_510+404del