Canonical Allele Identifier: CA401032947
Gene: LLGL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75568838G>T , CM000679.2:g.75568838G>T GRCh38
NC_000017.10:g.73564919G>T , CM000679.1:g.73564919G>T GRCh37
NC_000017.9:g.71076514G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392550.8:c.1321G>T MANE Select ENSP00000376333.4:p.Gly441Trp
ENST00000167462.9:c.1321G>T ENSP00000167462.5:p.Gly441Trp
ENST00000392550.7:c.1321G>T ENSP00000376333.3:p.Gly441Trp
ENST00000545227.6:n.1498G>T
ENST00000577200.5:c.1321G>T ENSP00000464397.1:p.Gly441Trp
ENST00000577500.5:n.841G>T
ENST00000578638.5:c.312G>T
ENST00000578719.1:c.21G>T
NM_001031803.1:c.1321G>T NP_001026973.1:p.Gly441Trp
NM_004524.2:c.1321G>T NP_004515.2:p.Gly441Trp
XM_006721897.2:c.1321G>T XP_006721960.1:p.Gly441Trp
XM_011524801.1:c.1321G>T XP_011523103.1:p.Gly441Trp
XM_011524802.1:c.1321G>T XP_011523104.1:p.Gly441Trp
XM_011524803.1:c.1321G>T XP_011523105.1:p.Gly441Trp
XM_011524804.1:c.1321G>T XP_011523106.1:p.Gly441Trp
XM_011524805.1:c.1321G>T XP_011523107.1:p.Gly441Trp
XM_011524806.1:c.1321G>T XP_011523108.1:p.Gly441Trp
XM_011524807.1:c.1123G>T XP_011523109.1:p.Gly375Trp
XM_017024625.1:c.1321G>T XP_016880114.1:p.Gly441Trp
XM_017024626.1:c.1321G>T XP_016880115.1:p.Gly441Trp
XM_017024627.1:c.1321G>T XP_016880116.1:p.Gly441Trp
XM_017024628.1:c.1321G>T XP_016880117.1:p.Gly441Trp
XM_017024629.1:c.1321G>T XP_016880118.1:p.Gly441Trp
XM_017024630.1:c.1321G>T XP_016880119.1:p.Gly441Trp
XM_017024631.1:c.1321G>T XP_016880120.1:p.Gly441Trp
XR_001752508.1:n.1446G>T
XR_002957999.1:n.1446G>T
XR_002958000.1:n.1513G>T
XR_002958001.1:n.1556G>T
XR_002958002.1:n.1485G>T
XR_002958003.1:n.1446G>T
XR_002958004.1:n.1564G>T
XR_002958005.1:n.1582G>T
NM_001031803.2:c.1321G>T MANE Select NP_001026973.1:p.Gly441Trp
NM_004524.3:c.1321G>T NP_004515.2:p.Gly441Trp