Canonical Allele Identifier: CA384132248

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715869G>C (hg19) ; chr12:g.21562935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562935G>C , CM000674.2:g.21562935G>C	GRCh38
NC_000012.11:g.21715869G>C , CM000674.1:g.21715869G>C	GRCh37
NC_000012.10:g.21607136G>C	NCBI36
NG_016167.1:g.46913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1045C>G MANE Select	ENSP00000261195.2:p.Leu349Val
ENST00000647960.1:c.*1047C>G	ENSP00000497202.1:n.*1047C>G
ENST00000648372.1:n.972C>G
ENST00000261195.2:c.1045C>G	ENSP00000261195.2:p.Leu349Val
NM_021957.3:c.1045C>G	NP_068776.2:p.Leu349Val
XM_005253352.1:c.1045C>G	XP_005253409.1:p.Leu349Val
XM_005253354.2:c.826C>G	XP_005253411.1:p.Leu276Val
XM_006719062.2:c.1045C>G	XP_006719125.1:p.Leu349Val
XM_006719063.2:c.814C>G	XP_006719126.1:p.Leu272Val
NM_021957.4:c.1045C>G MANE Select	NP_068776.2:p.Leu349Val
XM_006719063.3:c.814C>G	XP_006719126.1:p.Leu272Val
XM_017019245.2:c.1045C>G	XP_016874734.1:p.Leu349Val
XM_024448960.1:c.1045C>G	XP_024304728.1:p.Leu349Val