Canonical Allele Identifier: CA384133040

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715942C>G (hg19) ; chr12:g.21563008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563008C>G , CM000674.2:g.21563008C>G	GRCh38
NC_000012.11:g.21715942C>G , CM000674.1:g.21715942C>G	GRCh37
NC_000012.10:g.21607209C>G	NCBI36
NG_016167.1:g.46840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.972G>C MANE Select	ENSP00000261195.2:p.Leu324Phe
ENST00000647960.1:c.*974G>C	ENSP00000497202.1:n.*974G>C
ENST00000648372.1:n.899G>C
ENST00000261195.2:c.972G>C	ENSP00000261195.2:p.Leu324Phe
NM_021957.3:c.972G>C	NP_068776.2:p.Leu324Phe
XM_005253352.1:c.972G>C	XP_005253409.1:p.Leu324Phe
XM_005253354.2:c.753G>C	XP_005253411.1:p.Leu251Phe
XM_006719062.2:c.972G>C	XP_006719125.1:p.Leu324Phe
XM_006719063.2:c.741G>C	XP_006719126.1:p.Leu247Phe
NM_021957.4:c.972G>C MANE Select	NP_068776.2:p.Leu324Phe
XM_006719063.3:c.741G>C	XP_006719126.1:p.Leu247Phe
XM_017019245.2:c.972G>C	XP_016874734.1:p.Leu324Phe
XM_024448960.1:c.972G>C	XP_024304728.1:p.Leu324Phe