Canonical Allele Identifier: CA2617923654

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563116-G-GAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563116_21563117insAAA , CM000674.2:g.21563116_21563117insAAA	GRCh38
NC_000012.11:g.21716050_21716051insAAA , CM000674.1:g.21716050_21716051insAAA	GRCh37
NC_000012.10:g.21607317_21607318insAAA	NCBI36
NG_016167.1:g.46731_46732insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-79_942-78insTTT MANE Select	ENSP00000261195.2:n.942-79_942-78insTTT
ENST00000647960.1:c.*944-79_*944-78insTTT	ENSP00000497202.1:n.*944-79_*944-78insTTT
ENST00000648372.1:n.869-79_869-78insTTT
ENST00000261195.2:c.942-79_942-78insTTT	ENSP00000261195.2:n.942-79_942-78insTTT
NM_021957.3:c.942-79_942-78insTTT	NP_068776.2:n.942-79_942-78insTTT
XM_005253352.1:c.942-79_942-78insTTT	XP_005253409.1:n.942-79_942-78insTTT
XM_005253354.2:c.723-79_723-78insTTT	XP_005253411.1:n.723-79_723-78insTTT
XM_006719062.2:c.942-79_942-78insTTT	XP_006719125.1:n.942-79_942-78insTTT
XM_006719063.2:c.711-79_711-78insTTT	XP_006719126.1:n.711-79_711-78insTTT
NM_021957.4:c.942-79_942-78insTTT MANE Select	NP_068776.2:n.942-79_942-78insTTT
XM_006719063.3:c.711-79_711-78insTTT	XP_006719126.1:n.711-79_711-78insTTT
XM_017019245.2:c.942-79_942-78insTTT	XP_016874734.1:n.942-79_942-78insTTT
XM_024448960.1:c.942-79_942-78insTTT	XP_024304728.1:n.942-79_942-78insTTT