Canonical Allele Identifier: CA502046523
Gene: LLGL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.73565185C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75569104C>A , CM000679.2:g.75569104C>A GRCh38
NC_000017.10:g.73565185C>A , CM000679.1:g.73565185C>A GRCh37
NC_000017.9:g.71076780C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392550.8:c.1449C>A MANE Select ENSP00000376333.4:p.Gly483=
ENST00000167462.9:c.1449C>A ENSP00000167462.5:p.Gly483=
ENST00000392550.7:c.1449C>A ENSP00000376333.3:p.Gly483=
ENST00000545227.6:n.1626C>A
ENST00000577200.5:c.1449C>A ENSP00000464397.1:p.Gly483=
ENST00000577500.5:n.969C>A
ENST00000578638.5:c.440C>A
ENST00000578719.1:c.166C>A
NM_001031803.1:c.1449C>A NP_001026973.1:p.Gly483=
NM_004524.2:c.1449C>A NP_004515.2:p.Gly483=
XM_006721897.2:c.1449C>A XP_006721960.1:p.Gly483=
XM_011524801.1:c.1449C>A XP_011523103.1:p.Gly483=
XM_011524802.1:c.1449C>A XP_011523104.1:p.Gly483=
XM_011524803.1:c.1449C>A XP_011523105.1:p.Gly483=
XM_011524804.1:c.1449C>A XP_011523106.1:p.Gly483=
XM_011524805.1:c.1449C>A XP_011523107.1:p.Gly483=
XM_011524806.1:c.1449C>A XP_011523108.1:p.Gly483=
XM_011524807.1:c.1251C>A XP_011523109.1:p.Gly417=
XM_017024625.1:c.1449C>A XP_016880114.1:p.Gly483=
XM_017024626.1:c.1449C>A XP_016880115.1:p.Gly483=
XM_017024627.1:c.1449C>A XP_016880116.1:p.Gly483=
XM_017024628.1:c.1449C>A XP_016880117.1:p.Gly483=
XM_017024629.1:c.1449C>A XP_016880118.1:p.Gly483=
XM_017024630.1:c.1449C>A XP_016880119.1:p.Gly483=
XM_017024631.1:c.1449C>A XP_016880120.1:p.Gly483=
XR_001752508.1:n.1574C>A
XR_002957999.1:n.1574C>A
XR_002958000.1:n.1641C>A
XR_002958001.1:n.1684C>A
XR_002958002.1:n.1613C>A
XR_002958003.1:n.1574C>A
XR_002958004.1:n.1692C>A
XR_002958005.1:n.1710C>A
NM_001031803.2:c.1449C>A MANE Select NP_001026973.1:p.Gly483=
NM_004524.3:c.1449C>A NP_004515.2:p.Gly483=