Canonical Allele Identifier: CA2617922517

Gene: GYS2

Linked Data

• gnomAD v4: 12-21546286-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546286C>A , CM000674.2:g.21546286C>A	GRCh38
NC_000012.11:g.21699220C>A , CM000674.1:g.21699220C>A	GRCh37
NC_000012.10:g.21590487C>A	NCBI36
NG_016167.1:g.63562G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.1549+58G>T MANE Select	ENSP00000261195.2:n.1549+58G>T
ENST00000647960.1:c.*1551+58G>T	ENSP00000497202.1:n.*1551+58G>T
ENST00000261195.2:c.1549+58G>T	ENSP00000261195.2:n.1549+58G>T
NM_021957.3:c.1549+58G>T	NP_068776.2:n.1549+58G>T
XM_005253352.1:c.1549+58G>T	XP_005253409.1:n.1549+58G>T
XM_005253354.2:c.1330+58G>T	XP_005253411.1:n.1330+58G>T
XM_006719062.2:c.1549+58G>T	XP_006719125.1:n.1549+58G>T
XM_006719063.2:c.1318+58G>T	XP_006719126.1:n.1318+58G>T
NM_021957.4:c.1549+58G>T MANE Select	NP_068776.2:n.1549+58G>T
XM_006719063.3:c.1318+58G>T	XP_006719126.1:n.1318+58G>T
XM_024448960.1:c.1549+58G>T	XP_024304728.1:n.1549+58G>T