Canonical Allele Identifier: CA2617923023

Gene: GYS2

Linked Data

• gnomAD v4: 12-21559248-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559254_21559255dup , CM000674.2:g.21559254_21559255dup	GRCh38
NC_000012.11:g.21712188_21712189dup , CM000674.1:g.21712188_21712189dup	GRCh37
NC_000012.10:g.21603455_21603456dup	NCBI36
NG_016167.1:g.50598_50599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-81_1230-80dup MANE Select	ENSP00000261195.2:n.1230-81_1230-80dup
ENST00000647960.1:c.*1232-81_*1232-80dup	ENSP00000497202.1:n.*1232-81_*1232-80dup
ENST00000648372.1:n.1157-81_1157-80dup
ENST00000261195.2:c.1230-81_1230-80dup	ENSP00000261195.2:n.1230-81_1230-80dup
NM_021957.3:c.1230-81_1230-80dup	NP_068776.2:n.1230-81_1230-80dup
XM_005253352.1:c.1230-81_1230-80dup	XP_005253409.1:n.1230-81_1230-80dup
XM_005253354.2:c.1011-81_1011-80dup	XP_005253411.1:n.1011-81_1011-80dup
XM_006719062.2:c.1230-81_1230-80dup	XP_006719125.1:n.1230-81_1230-80dup
XM_006719063.2:c.999-81_999-80dup	XP_006719126.1:n.999-81_999-80dup
NM_021957.4:c.1230-81_1230-80dup MANE Select	NP_068776.2:n.1230-81_1230-80dup
XM_006719063.3:c.999-81_999-80dup	XP_006719126.1:n.999-81_999-80dup
XM_024448960.1:c.1230-81_1230-80dup	XP_024304728.1:n.1230-81_1230-80dup