Canonical Allele Identifier: CA2617923583

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562867-A-AGAAGGGTTGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACTTCCCACAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562867_21562868insGAAGGGTTGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACTTCCCACAGG , CM000674.2:g.21562867_21562868insGAAGGGTTGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACTTCCCACAGG	GRCh38
NC_000012.11:g.21715801_21715802insGAAGGGTTGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACTTCCCACAGG , CM000674.1:g.21715801_21715802insGAAGGGTTGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACTTCCCACAGG	GRCh37
NC_000012.10:g.21607068_21607069insGAAGGGTTGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACTTCCCACAGG	NCBI36
NG_016167.1:g.46980_46981insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC MANE Select	ENSP00000261195.2:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAAC...
ENST00000647960.1:c.*1064+50_*1064+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	ENSP00000497202.1:n.*1064+50_*1064+51insCCTGTGGGAAGTGTTAGGCGA...
ENST00000648372.1:n.989+50_989+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC
ENST00000261195.2:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	ENSP00000261195.2:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAAC...
NM_021957.3:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	NP_068776.2:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATA...
XM_005253352.1:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_005253409.1:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTG...
XM_005253354.2:c.843+50_843+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_005253411.1:n.843+50_843+51insCCTGTGGGAAGTGTTAGGCGAACGTGAT...
XM_006719062.2:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_006719125.1:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTG...
XM_006719063.2:c.831+50_831+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_006719126.1:n.831+50_831+51insCCTGTGGGAAGTGTTAGGCGAACGTGAT...
NM_021957.4:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC MANE Select	NP_068776.2:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATA...
XM_006719063.3:c.831+50_831+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_006719126.1:n.831+50_831+51insCCTGTGGGAAGTGTTAGGCGAACGTGAT...
XM_017019245.2:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_016874734.1:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTG...
XM_024448960.1:c.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTGATAACCACTACACTACGGAAACAACCCTTC	XP_024304728.1:n.1062+50_1062+51insCCTGTGGGAAGTGTTAGGCGAACGTG...