Canonical Allele Identifier: CA478869490

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562957-G-T
• MyVariant Identifiers: chr12:g.21715891G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562957G>T , CM000674.2:g.21562957G>T	GRCh38
NC_000012.11:g.21715891G>T , CM000674.1:g.21715891G>T	GRCh37
NC_000012.10:g.21607158G>T	NCBI36
NG_016167.1:g.46891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1023C>A MANE Select	ENSP00000261195.2:p.Ile341=
ENST00000647960.1:c.*1025C>A	ENSP00000497202.1:n.*1025C>A
ENST00000648372.1:n.950C>A
ENST00000261195.2:c.1023C>A	ENSP00000261195.2:p.Ile341=
NM_021957.3:c.1023C>A	NP_068776.2:p.Ile341=
XM_005253352.1:c.1023C>A	XP_005253409.1:p.Ile341=
XM_005253354.2:c.804C>A	XP_005253411.1:p.Ile268=
XM_006719062.2:c.1023C>A	XP_006719125.1:p.Ile341=
XM_006719063.2:c.792C>A	XP_006719126.1:p.Ile264=
NM_021957.4:c.1023C>A MANE Select	NP_068776.2:p.Ile341=
XM_006719063.3:c.792C>A	XP_006719126.1:p.Ile264=
XM_017019245.2:c.1023C>A	XP_016874734.1:p.Ile341=
XM_024448960.1:c.1023C>A	XP_024304728.1:p.Ile341=