Canonical Allele Identifier: CA2617923674

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563142-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563142C>A , CM000674.2:g.21563142C>A	GRCh38
NC_000012.11:g.21716076C>A , CM000674.1:g.21716076C>A	GRCh37
NC_000012.10:g.21607343C>A	NCBI36
NG_016167.1:g.46706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.941+86G>T MANE Select	ENSP00000261195.2:n.941+86G>T
ENST00000647960.1:c.*943+86G>T	ENSP00000497202.1:n.*943+86G>T
ENST00000648372.1:n.868+86G>T
ENST00000261195.2:c.941+86G>T	ENSP00000261195.2:n.941+86G>T
NM_021957.3:c.941+86G>T	NP_068776.2:n.941+86G>T
XM_005253352.1:c.941+86G>T	XP_005253409.1:n.941+86G>T
XM_005253354.2:c.722+86G>T	XP_005253411.1:n.722+86G>T
XM_006719062.2:c.941+86G>T	XP_006719125.1:n.941+86G>T
XM_006719063.2:c.710+86G>T	XP_006719126.1:n.710+86G>T
NM_021957.4:c.941+86G>T MANE Select	NP_068776.2:n.941+86G>T
XM_006719063.3:c.710+86G>T	XP_006719126.1:n.710+86G>T
XM_017019245.2:c.941+86G>T	XP_016874734.1:n.941+86G>T
XM_024448960.1:c.941+86G>T	XP_024304728.1:n.941+86G>T