Canonical Allele Identifier: CA384132393

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562950-C-A
• MyVariant Identifiers: chr12:g.21715884C>A (hg19) ; chr12:g.21562950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562950C>A , CM000674.2:g.21562950C>A	GRCh38
NC_000012.11:g.21715884C>A , CM000674.1:g.21715884C>A	GRCh37
NC_000012.10:g.21607151C>A	NCBI36
NG_016167.1:g.46898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1030G>T MANE Select	ENSP00000261195.2:p.Glu344Ter
ENST00000647960.1:c.*1032G>T	ENSP00000497202.1:n.*1032G>T
ENST00000648372.1:n.957G>T
ENST00000261195.2:c.1030G>T	ENSP00000261195.2:p.Glu344Ter
NM_021957.3:c.1030G>T	NP_068776.2:p.Glu344Ter
XM_005253352.1:c.1030G>T	XP_005253409.1:p.Glu344Ter
XM_005253354.2:c.811G>T	XP_005253411.1:p.Glu271Ter
XM_006719062.2:c.1030G>T	XP_006719125.1:p.Glu344Ter
XM_006719063.2:c.799G>T	XP_006719126.1:p.Glu267Ter
NM_021957.4:c.1030G>T MANE Select	NP_068776.2:p.Glu344Ter
XM_006719063.3:c.799G>T	XP_006719126.1:p.Glu267Ter
XM_017019245.2:c.1030G>T	XP_016874734.1:p.Glu344Ter
XM_024448960.1:c.1030G>T	XP_024304728.1:p.Glu344Ter