Canonical Allele Identifier: CA2275574382

Gene: LLGL2

Linked Data

• dbSNP Id: rs2055564415
• gnomAD v4: 17-75568896-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75568896A>G , CM000679.2:g.75568896A>G	GRCh38
NC_000017.10:g.73564977A>G , CM000679.1:g.73564977A>G	GRCh37
NC_000017.9:g.71076572A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392550.8:c.1322+57A>G MANE Select	ENSP00000376333.4:n.1322+57A>G
ENST00000167462.9:c.1322+57A>G	ENSP00000167462.5:n.1322+57A>G
ENST00000392550.7:c.1322+57A>G	ENSP00000376333.3:n.1322+57A>G
ENST00000545227.6:n.1499+57A>G
ENST00000577200.5:c.1322+57A>G	ENSP00000464397.1:n.1322+57A>G
ENST00000577500.5:n.842+57A>G
ENST00000578638.5:c.313+57A>G
ENST00000578719.1:c.22+57A>G
NM_001031803.1:c.1322+57A>G	NP_001026973.1:n.1322+57A>G
NM_004524.2:c.1322+57A>G	NP_004515.2:n.1322+57A>G
XM_006721897.2:c.1322+57A>G	XP_006721960.1:n.1322+57A>G
XM_011524801.1:c.1322+57A>G	XP_011523103.1:n.1322+57A>G
XM_011524802.1:c.1322+57A>G	XP_011523104.1:n.1322+57A>G
XM_011524803.1:c.1322+57A>G	XP_011523105.1:n.1322+57A>G
XM_011524804.1:c.1322+57A>G	XP_011523106.1:n.1322+57A>G
XM_011524805.1:c.1322+57A>G	XP_011523107.1:n.1322+57A>G
XM_011524806.1:c.1322+57A>G	XP_011523108.1:n.1322+57A>G
XM_011524807.1:c.1124+57A>G	XP_011523109.1:n.1124+57A>G
XM_017024625.1:c.1322+57A>G	XP_016880114.1:n.1322+57A>G
XM_017024626.1:c.1322+57A>G	XP_016880115.1:n.1322+57A>G
XM_017024627.1:c.1322+57A>G	XP_016880116.1:n.1322+57A>G
XM_017024628.1:c.1322+57A>G	XP_016880117.1:n.1322+57A>G
XM_017024629.1:c.1322+57A>G	XP_016880118.1:n.1322+57A>G
XM_017024630.1:c.1322+57A>G	XP_016880119.1:n.1322+57A>G
XM_017024631.1:c.1322+57A>G	XP_016880120.1:n.1322+57A>G
XR_001752508.1:n.1447+57A>G
XR_002957999.1:n.1447+57A>G
XR_002958000.1:n.1514+57A>G
XR_002958001.1:n.1557+57A>G
XR_002958002.1:n.1486+57A>G
XR_002958003.1:n.1447+57A>G
XR_002958004.1:n.1565+57A>G
XR_002958005.1:n.1583+57A>G
NM_001031803.2:c.1322+57A>G MANE Select	NP_001026973.1:n.1322+57A>G
NM_004524.3:c.1322+57A>G	NP_004515.2:n.1322+57A>G