Canonical Allele Identifier: CA2617923584

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562868-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562868A>G , CM000674.2:g.21562868A>G	GRCh38
NC_000012.11:g.21715802A>G , CM000674.1:g.21715802A>G	GRCh37
NC_000012.10:g.21607069A>G	NCBI36
NG_016167.1:g.46980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+50T>C MANE Select	ENSP00000261195.2:n.1062+50T>C
ENST00000647960.1:c.*1064+50T>C	ENSP00000497202.1:n.*1064+50T>C
ENST00000648372.1:n.989+50T>C
ENST00000261195.2:c.1062+50T>C	ENSP00000261195.2:n.1062+50T>C
NM_021957.3:c.1062+50T>C	NP_068776.2:n.1062+50T>C
XM_005253352.1:c.1062+50T>C	XP_005253409.1:n.1062+50T>C
XM_005253354.2:c.843+50T>C	XP_005253411.1:n.843+50T>C
XM_006719062.2:c.1062+50T>C	XP_006719125.1:n.1062+50T>C
XM_006719063.2:c.831+50T>C	XP_006719126.1:n.831+50T>C
NM_021957.4:c.1062+50T>C MANE Select	NP_068776.2:n.1062+50T>C
XM_006719063.3:c.831+50T>C	XP_006719126.1:n.831+50T>C
XM_017019245.2:c.1062+50T>C	XP_016874734.1:n.1062+50T>C
XM_024448960.1:c.1062+50T>C	XP_024304728.1:n.1062+50T>C