Canonical Allele Identifier: CA2617923035

Gene: GYS2

Linked Data

• gnomAD v4: 12-21559277-TGTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559278_21559281del , CM000674.2:g.21559278_21559281del	GRCh38
NC_000012.11:g.21712212_21712215del , CM000674.1:g.21712212_21712215del	GRCh37
NC_000012.10:g.21603479_21603482del	NCBI36
NG_016167.1:g.50567_50570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-112_1230-109del MANE Select	ENSP00000261195.2:n.1230-112_1230-109del
ENST00000647960.1:c.*1232-112_*1232-109del	ENSP00000497202.1:n.*1232-112_*1232-109del
ENST00000648372.1:n.1157-112_1157-109del
ENST00000261195.2:c.1230-112_1230-109del	ENSP00000261195.2:n.1230-112_1230-109del
NM_021957.3:c.1230-112_1230-109del	NP_068776.2:n.1230-112_1230-109del
XM_005253352.1:c.1230-112_1230-109del	XP_005253409.1:n.1230-112_1230-109del
XM_005253354.2:c.1011-112_1011-109del	XP_005253411.1:n.1011-112_1011-109del
XM_006719062.2:c.1230-112_1230-109del	XP_006719125.1:n.1230-112_1230-109del
XM_006719063.2:c.999-112_999-109del	XP_006719126.1:n.999-112_999-109del
NM_021957.4:c.1230-112_1230-109del MANE Select	NP_068776.2:n.1230-112_1230-109del
XM_006719063.3:c.999-112_999-109del	XP_006719126.1:n.999-112_999-109del
XM_024448960.1:c.1230-112_1230-109del	XP_024304728.1:n.1230-112_1230-109del