Canonical Allele Identifier: CA2685701421

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151632042-GGCCGGCAGCGGGCGGGGCGCACTCACCTTCGTCCTCGAACTCCAGCTTCTCCAGCATGCCGGCTTCCGCGGGTCCCAGGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151632047_151632128del , CM000669.2:g.151632047_151632128del	GRCh38
NC_000007.13:g.151329133_151329214del , CM000669.1:g.151329133_151329214del	GRCh37
NC_000007.12:g.150960066_150960147del	NCBI36
NG_007486.1:g.250107_250188del
NG_007486.2:g.250108_250189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.-25_31+26del
ENST00000652321.2:c.699_754+26del
ENST00000287878.9:c.699_754+26del
ENST00000476632.2:c.-25_31+26del
ENST00000491938.6:n.45_100+26del
ENST00000492843.6:c.327_382+26del
ENST00000650858.1:c.-29-36670_-29-36589del	ENSP00000498384.1:n.-29-36670_-29-36589del
ENST00000650948.1:n.814_869+26del
ENST00000651188.1:c.553-36673_553-36592del	ENSP00000498557.1:n.553-36673_553-36592del
ENST00000651303.1:c.567_622+26del
ENST00000651378.1:c.-25_31+26del
ENST00000651764.1:c.567_622+26del
ENST00000651836.1:c.470_525+26del
ENST00000652047.1:c.567_622+26del
ENST00000652136.1:n.435_490+26del
ENST00000652159.1:c.567_622+26del
ENST00000652321.1:c.699_754+26del
ENST00000652397.1:c.-25_31+26del
ENST00000652572.1:n.80_135+26del
ENST00000652707.1:c.567_622+26del
ENST00000287878.8:c.699_754+26del
ENST00000392801.6:c.567_622+26del
ENST00000418337.6:c.-25_31+26del
ENST00000476632.1:c.-25_31+26del
ENST00000483775.1:n.104_159+26del
ENST00000488258.5:c.685-36670_685-36589del	ENSP00000420783.1:n.685-36670_685-36589del
ENST00000491938.5:n.45_100+26del
ENST00000492843.5:c.327_382+26del
ENST00000493872.5:c.-25_31+26del
NM_001040633.1:c.567_622+26del
NM_001304527.1:c.327_382+26del
NM_001304531.1:c.-25_31+26del
NM_016203.3:c.699_754+26del
NM_024429.1:c.-25_31+26del
XM_005250002.2:c.699_754+26del
XM_005250004.2:c.567_622+26del
XM_005250006.3:c.327_382+26del
XM_006716021.2:c.687_742+26del
XM_011516282.1:c.687_742+26del
XM_011516283.1:c.687_742+26del
XM_011516284.1:c.687_742+26del
XM_011516285.1:c.-25_31+26del
XM_011516287.1:c.-29-36670_-29-36589del	XP_011514589.1:n.-29-36670_-29-36589del
NM_001363698.1:c.327_382+26del
XM_005250002.4:c.699_754+26del
XM_005250004.4:c.567_622+26del
XM_005250006.5:c.327_382+26del
XM_011516285.2:c.-25_31+26del
XM_017012268.2:c.567_622+26del
XM_017012269.1:c.699_754+26del
XM_017012270.1:c.567_622+26del
XM_017012271.2:c.567_622+26del
XM_017012272.1:c.567_622+26del
XM_017012274.2:c.-25_31+26del
XM_017012275.2:c.-26-36673_-26-36592del	XP_016867764.1:n.-26-36673_-26-36592del
XM_017012276.2:c.-25_31+26del
XM_017012278.1:c.-29-36670_-29-36589del	XP_016867767.1:n.-29-36670_-29-36589del
XM_017012279.2:c.-29-36670_-29-36589del	XP_016867768.1:n.-29-36670_-29-36589del
XM_017012280.2:c.-26-36673_-26-36592del	XP_016867769.1:n.-26-36673_-26-36592del
XM_017012281.2:c.-26-36673_-26-36592del	XP_016867770.1:n.-26-36673_-26-36592del
XM_024446786.1:c.567_622+26del
XM_024446787.1:c.-25_31+26del
XM_024446788.1:c.-25_31+26del
XM_024446789.1:c.-25_31+26del
NM_016203.4:c.699_754+26del
NM_001040633.2:c.567_622+26del
NM_001304527.2:c.327_382+26del
NM_001304531.2:c.-25_31+26del
NM_001363698.2:c.327_382+26del
NM_024429.2:c.-25_31+26del