Canonical Allele Identifier: CA2685701483

Gene: PRKAG2

Linked Data

• gnomAD v4: 7-151632120-GGGCCGCCGCCAGCGCCGCCTGAGGGGGAGGAGGAGGACAGCGATCAGCATGAGCTGCGACGCTCGTCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151632126_151632195del , CM000669.2:g.151632126_151632195del	GRCh38
NC_000007.13:g.151329212_151329281del , CM000669.1:g.151329212_151329281del	GRCh37
NC_000007.12:g.150960145_150960214del	NCBI36
NG_007486.1:g.250041_250110del
NG_007486.2:g.250042_250111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.-91_-22del	ENSP00000420645.3:n.-91_-22del
ENST00000652321.2:c.685-52_702del
ENST00000287878.9:c.685-52_702del
ENST00000476632.2:c.-39-52_-22del
ENST00000492843.6:c.313-52_330del
ENST00000650858.1:c.-29-36736_-29-36667del	ENSP00000498384.1:n.-29-36736_-29-36667del
ENST00000650948.1:n.800-52_817del
ENST00000651188.1:c.553-36739_553-36670del	ENSP00000498557.1:n.553-36739_553-36670del
ENST00000651303.1:c.553-52_570del
ENST00000651378.1:c.-39-52_-22del
ENST00000651764.1:c.553-52_570del
ENST00000651836.1:c.456-52_473del
ENST00000652047.1:c.553-52_570del
ENST00000652136.1:n.421-52_438del
ENST00000652159.1:c.553-52_570del
ENST00000652321.1:c.685-52_702del
ENST00000652397.1:c.-91_-22del	ENSP00000498351.1:n.-91_-22del
ENST00000652572.1:n.14_83del
ENST00000652707.1:c.553-52_570del
ENST00000287878.8:c.685-52_702del
ENST00000392801.6:c.553-52_570del
ENST00000418337.6:c.-91_-22del	ENSP00000387386.2:n.-91_-22del
ENST00000476632.1:c.-39-52_-22del
ENST00000483775.1:n.38_107del
ENST00000488258.5:c.685-36736_685-36667del	ENSP00000420783.1:n.685-36736_685-36667del
ENST00000492843.5:c.313-52_330del
NM_001040633.1:c.553-52_570del
NM_001304527.1:c.313-52_330del
NM_001304531.1:c.-39-52_-22del
NM_016203.3:c.685-52_702del
NM_024429.1:c.-91_-22del	NP_077747.1:n.-91_-22del
XM_005250002.2:c.685-52_702del
XM_005250004.2:c.553-52_570del
XM_005250006.3:c.313-52_330del
XM_006716021.2:c.673-52_690del
XM_011516282.1:c.673-52_690del
XM_011516283.1:c.673-52_690del
XM_011516284.1:c.673-52_690del
XM_011516285.1:c.-39-52_-22del
XM_011516287.1:c.-29-36736_-29-36667del	XP_011514589.1:n.-29-36736_-29-36667del
NM_001363698.1:c.313-52_330del
XM_005250002.4:c.685-52_702del
XM_005250004.4:c.553-52_570del
XM_005250006.5:c.313-52_330del
XM_011516285.2:c.-39-52_-22del
XM_017012268.2:c.553-52_570del
XM_017012269.1:c.685-52_702del
XM_017012270.1:c.553-52_570del
XM_017012271.2:c.553-52_570del
XM_017012272.1:c.553-52_570del
XM_017012274.2:c.-39-52_-22del
XM_017012275.2:c.-26-36739_-26-36670del	XP_016867764.1:n.-26-36739_-26-36670del
XM_017012276.2:c.-39-52_-22del
XM_017012278.1:c.-29-36736_-29-36667del	XP_016867767.1:n.-29-36736_-29-36667del
XM_017012279.2:c.-29-36736_-29-36667del	XP_016867768.1:n.-29-36736_-29-36667del
XM_017012280.2:c.-26-36739_-26-36670del	XP_016867769.1:n.-26-36739_-26-36670del
XM_017012281.2:c.-26-36739_-26-36670del	XP_016867770.1:n.-26-36739_-26-36670del
XM_024446786.1:c.553-52_570del
XM_024446787.1:c.-39-52_-22del
XM_024446788.1:c.-39-52_-22del
XM_024446789.1:c.-39-52_-22del
NM_016203.4:c.685-52_702del
NM_001040633.2:c.553-52_570del
NM_001304527.2:c.313-52_330del
NM_001304531.2:c.-39-52_-22del
NM_001363698.2:c.313-52_330del
NM_024429.2:c.-91_-22del	NP_077747.1:n.-91_-22del