Canonical Allele Identifier: CA233603727

Gene: GYS2

Linked Data

• dbSNP Id: rs918460794
• gnomAD v2: 12-21712351-G-A
• gnomAD v3: 12-21559417-G-A
• gnomAD v4: 12-21559417-G-A
• MyVariant Identifiers: chr12:g.21712351G>A (hg19) ; chr12:g.21559417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559417G>A , CM000674.2:g.21559417G>A	GRCh38
NC_000012.11:g.21712351G>A , CM000674.1:g.21712351G>A	GRCh37
NC_000012.10:g.21603618G>A	NCBI36
NG_016167.1:g.50431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1229+234C>T MANE Select	ENSP00000261195.2:n.1229+234C>T
ENST00000647960.1:c.*1231+234C>T	ENSP00000497202.1:n.*1231+234C>T
ENST00000648372.1:n.1156+234C>T
ENST00000261195.2:c.1229+234C>T	ENSP00000261195.2:n.1229+234C>T
NM_021957.3:c.1229+234C>T	NP_068776.2:n.1229+234C>T
XM_005253352.1:c.1229+234C>T	XP_005253409.1:n.1229+234C>T
XM_005253354.2:c.1010+234C>T	XP_005253411.1:n.1010+234C>T
XM_006719062.2:c.1229+234C>T	XP_006719125.1:n.1229+234C>T
XM_006719063.2:c.998+234C>T	XP_006719126.1:n.998+234C>T
NM_021957.4:c.1229+234C>T MANE Select	NP_068776.2:n.1229+234C>T
XM_006719063.3:c.998+234C>T	XP_006719126.1:n.998+234C>T
XM_024448960.1:c.1229+234C>T	XP_024304728.1:n.1229+234C>T