Canonical Allele Identifier: CA233583786

Gene: GYS2

Linked Data

• dbSNP Id: rs367651826
• gnomAD v2: 12-21699471-A-C
• gnomAD v3: 12-21546537-A-C
• gnomAD v4: 12-21546537-A-C
• MyVariant Identifiers: chr12:g.21699471A>C (hg19) ; chr12:g.21546537A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546537A>C , CM000674.2:g.21546537A>C	GRCh38
NC_000012.11:g.21699471A>C , CM000674.1:g.21699471A>C	GRCh37
NC_000012.10:g.21590738A>C	NCBI36
NG_016167.1:g.63311T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423-67T>G MANE Select	ENSP00000261195.2:n.1423-67T>G
ENST00000647960.1:c.*1425-67T>G	ENSP00000497202.1:n.*1425-67T>G
ENST00000261195.2:c.1423-67T>G	ENSP00000261195.2:n.1423-67T>G
NM_021957.3:c.1423-67T>G	NP_068776.2:n.1423-67T>G
XM_005253352.1:c.1423-67T>G	XP_005253409.1:n.1423-67T>G
XM_005253354.2:c.1204-67T>G	XP_005253411.1:n.1204-67T>G
XM_006719062.2:c.1423-67T>G	XP_006719125.1:n.1423-67T>G
XM_006719063.2:c.1192-67T>G	XP_006719126.1:n.1192-67T>G
NM_021957.4:c.1423-67T>G MANE Select	NP_068776.2:n.1423-67T>G
XM_006719063.3:c.1192-67T>G	XP_006719126.1:n.1192-67T>G
XM_024448960.1:c.1423-67T>G	XP_024304728.1:n.1423-67T>G