Canonical Allele Identifier: CA502046063

Gene: LLGL2

Linked Data

• dbSNP Id: rs1157714413
• gnomAD v2: 17-73564915-C-T
• MyVariant Identifiers: chr17:g.73564915C>T (hg19) ; chr17:g.75568834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75568834C>T , CM000679.2:g.75568834C>T	GRCh38
NC_000017.10:g.73564915C>T , CM000679.1:g.73564915C>T	GRCh37
NC_000017.9:g.71076510C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392550.8:c.1317C>T MANE Select	ENSP00000376333.4:p.Leu439=
ENST00000167462.9:c.1317C>T	ENSP00000167462.5:p.Leu439=
ENST00000392550.7:c.1317C>T	ENSP00000376333.3:p.Leu439=
ENST00000545227.6:n.1494C>T
ENST00000577200.5:c.1317C>T	ENSP00000464397.1:p.Leu439=
ENST00000577500.5:n.837C>T
ENST00000578638.5:c.308C>T
ENST00000578719.1:c.17C>T
NM_001031803.1:c.1317C>T	NP_001026973.1:p.Leu439=
NM_004524.2:c.1317C>T	NP_004515.2:p.Leu439=
XM_006721897.2:c.1317C>T	XP_006721960.1:p.Leu439=
XM_011524801.1:c.1317C>T	XP_011523103.1:p.Leu439=
XM_011524802.1:c.1317C>T	XP_011523104.1:p.Leu439=
XM_011524803.1:c.1317C>T	XP_011523105.1:p.Leu439=
XM_011524804.1:c.1317C>T	XP_011523106.1:p.Leu439=
XM_011524805.1:c.1317C>T	XP_011523107.1:p.Leu439=
XM_011524806.1:c.1317C>T	XP_011523108.1:p.Leu439=
XM_011524807.1:c.1119C>T	XP_011523109.1:p.Leu373=
XM_017024625.1:c.1317C>T	XP_016880114.1:p.Leu439=
XM_017024626.1:c.1317C>T	XP_016880115.1:p.Leu439=
XM_017024627.1:c.1317C>T	XP_016880116.1:p.Leu439=
XM_017024628.1:c.1317C>T	XP_016880117.1:p.Leu439=
XM_017024629.1:c.1317C>T	XP_016880118.1:p.Leu439=
XM_017024630.1:c.1317C>T	XP_016880119.1:p.Leu439=
XM_017024631.1:c.1317C>T	XP_016880120.1:p.Leu439=
XR_001752508.1:n.1442C>T
XR_002957999.1:n.1442C>T
XR_002958000.1:n.1509C>T
XR_002958001.1:n.1552C>T
XR_002958002.1:n.1481C>T
XR_002958003.1:n.1442C>T
XR_002958004.1:n.1560C>T
XR_002958005.1:n.1578C>T
NM_001031803.2:c.1317C>T MANE Select	NP_001026973.1:p.Leu439=
NM_004524.3:c.1317C>T	NP_004515.2:p.Leu439=