Canonical Allele Identifier: CA1955286

Gene: LRP2

Linked Data

• ClinVar Variation Id: 892843
• ClinVar RCV Id: RCV001129584 ; RCV002556823
• dbSNP Id: rs374039326
• ExAC: 2:170115536 C / T
• gnomAD v2: 2-170115536-C-T
• gnomAD v3: 2-169259026-C-T
• gnomAD v4: 2-169259026-C-T
• MyVariant Identifiers: chr2:g.170115536C>T (hg19) ; chr2:g.169259026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259026C>T , CM000664.2:g.169259026C>T	GRCh38
NC_000002.11:g.170115536C>T , CM000664.1:g.170115536C>T	GRCh37
NC_000002.10:g.169823782C>T	NCBI36
NG_012634.1:g.108587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2512G>A MANE Select	ENSP00000496870.1:p.Gly838Arg
ENST00000263816.7:c.2512G>A	ENSP00000263816.3:p.Gly838Arg
ENST00000443831.1:c.2101G>A	ENSP00000409813.1:p.Gly701Arg
NM_004525.2:c.2512G>A	NP_004516.2:p.Gly838Arg
XM_011511183.1:c.2512G>A	XP_011509485.1:p.Gly838Arg
XM_011511184.1:c.223G>A	XP_011509486.1:p.Gly75Arg
XM_011511185.1:c.2512G>A	XP_011509487.1:p.Gly838Arg
NM_004525.3:c.2512G>A MANE Select	NP_004516.2:p.Gly838Arg
XM_011511183.3:c.2512G>A	XP_011509485.1:p.Gly838Arg
XM_011511184.2:c.223G>A	XP_011509486.1:p.Gly75Arg