Canonical Allele Identifier: CA945500424

Gene: GYS2

Linked Data

• gnomAD v3: 12-21563113-AATGTACAAAGGGGGCTGGGAAAGATAAACATTT-A
• gnomAD v4: 12-21563113-AATGTACAAAGGGGGCTGGGAAAGATAAACATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563116_21563148del , CM000674.2:g.21563116_21563148del	GRCh38
NC_000012.11:g.21716050_21716082del , CM000674.1:g.21716050_21716082del	GRCh37
NC_000012.10:g.21607317_21607349del	NCBI36
NG_016167.1:g.46702_46734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.941+82_942-76del MANE Select	ENSP00000261195.2:n.941+82_942-76del
ENST00000647960.1:c.*943+82_*944-76del	ENSP00000497202.1:n.*943+82_*944-76del
ENST00000648372.1:n.868+82_869-76del
ENST00000261195.2:c.941+82_942-76del	ENSP00000261195.2:n.941+82_942-76del
NM_021957.3:c.941+82_942-76del	NP_068776.2:n.941+82_942-76del
XM_005253352.1:c.941+82_942-76del	XP_005253409.1:n.941+82_942-76del
XM_005253354.2:c.722+82_723-76del	XP_005253411.1:n.722+82_723-76del
XM_006719062.2:c.941+82_942-76del	XP_006719125.1:n.941+82_942-76del
XM_006719063.2:c.710+82_711-76del	XP_006719126.1:n.710+82_711-76del
NM_021957.4:c.941+82_942-76del MANE Select	NP_068776.2:n.941+82_942-76del
XM_006719063.3:c.710+82_711-76del	XP_006719126.1:n.710+82_711-76del
XM_017019245.2:c.941+82_942-76del	XP_016874734.1:n.941+82_942-76del
XM_024448960.1:c.941+82_942-76del	XP_024304728.1:n.941+82_942-76del