Canonical Allele Identifier: CA2617922878

Gene: GYS2

Linked Data

• gnomAD v4: 12-21546551-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546551_21546552insT , CM000674.2:g.21546551_21546552insT	GRCh38
NC_000012.11:g.21699485_21699486insT , CM000674.1:g.21699485_21699486insT	GRCh37
NC_000012.10:g.21590752_21590753insT	NCBI36
NG_016167.1:g.63296_63297insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423-82_1423-81insA MANE Select	ENSP00000261195.2:n.1423-82_1423-81insA
ENST00000647960.1:c.*1425-82_*1425-81insA	ENSP00000497202.1:n.*1425-82_*1425-81insA
ENST00000261195.2:c.1423-82_1423-81insA	ENSP00000261195.2:n.1423-82_1423-81insA
NM_021957.3:c.1423-82_1423-81insA	NP_068776.2:n.1423-82_1423-81insA
XM_005253352.1:c.1423-82_1423-81insA	XP_005253409.1:n.1423-82_1423-81insA
XM_005253354.2:c.1204-82_1204-81insA	XP_005253411.1:n.1204-82_1204-81insA
XM_006719062.2:c.1423-82_1423-81insA	XP_006719125.1:n.1423-82_1423-81insA
XM_006719063.2:c.1192-82_1192-81insA	XP_006719126.1:n.1192-82_1192-81insA
NM_021957.4:c.1423-82_1423-81insA MANE Select	NP_068776.2:n.1423-82_1423-81insA
XM_006719063.3:c.1192-82_1192-81insA	XP_006719126.1:n.1192-82_1192-81insA
XM_024448960.1:c.1423-82_1423-81insA	XP_024304728.1:n.1423-82_1423-81insA