Canonical Allele Identifier: CA945509680

Gene: GYS2

Linked Data

• dbSNP Id: rs1944042444
• gnomAD v3: 12-21546536-C-T
• gnomAD v4: 12-21546536-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546536C>T , CM000674.2:g.21546536C>T	GRCh38
NC_000012.11:g.21699470C>T , CM000674.1:g.21699470C>T	GRCh37
NC_000012.10:g.21590737C>T	NCBI36
NG_016167.1:g.63312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423-66G>A MANE Select	ENSP00000261195.2:n.1423-66G>A
ENST00000647960.1:c.*1425-66G>A	ENSP00000497202.1:n.*1425-66G>A
ENST00000261195.2:c.1423-66G>A	ENSP00000261195.2:n.1423-66G>A
NM_021957.3:c.1423-66G>A	NP_068776.2:n.1423-66G>A
XM_005253352.1:c.1423-66G>A	XP_005253409.1:n.1423-66G>A
XM_005253354.2:c.1204-66G>A	XP_005253411.1:n.1204-66G>A
XM_006719062.2:c.1423-66G>A	XP_006719125.1:n.1423-66G>A
XM_006719063.2:c.1192-66G>A	XP_006719126.1:n.1192-66G>A
NM_021957.4:c.1423-66G>A MANE Select	NP_068776.2:n.1423-66G>A
XM_006719063.3:c.1192-66G>A	XP_006719126.1:n.1192-66G>A
XM_024448960.1:c.1423-66G>A	XP_024304728.1:n.1423-66G>A