Canonical Allele Identifier: CA1953212

Gene: LRP2

Linked Data

• ClinVar Variation Id: 74222
• ClinVar RCV Id: RCV000624161 ; RCV000891452 ; RCV001134469 ; RCV003915031
• dbSNP Id: rs142549310
• ExAC: 2:170030506 C / T
• gnomAD v2: 2-170030506-C-T
• gnomAD v3: 2-169173996-C-T
• gnomAD v4: 2-169173996-C-T
• COSMIC: COSM145593
• MyVariant Identifiers: chr2:g.170030506C>T (hg19) ; chr2:g.169173996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169173996C>T , CM000664.2:g.169173996C>T	GRCh38
NC_000002.11:g.170030506C>T , CM000664.1:g.170030506C>T	GRCh37
NC_000002.10:g.169738752C>T	NCBI36
NG_012634.1:g.193617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.10937G>A MANE Select	ENSP00000496870.1:p.Arg3646His
ENST00000649153.1:c.1837G>A
ENST00000263816.7:c.10937G>A	ENSP00000263816.3:p.Arg3646His
NM_004525.2:c.10937G>A	NP_004516.2:p.Arg3646His
XM_011511183.1:c.10937G>A	XP_011509485.1:p.Arg3646His
XM_011511184.1:c.8648G>A	XP_011509486.1:p.Arg2883His
NM_004525.3:c.10937G>A MANE Select	NP_004516.2:p.Arg3646His
XM_011511183.3:c.10937G>A	XP_011509485.1:p.Arg3646His
XM_011511184.2:c.8648G>A	XP_011509486.1:p.Arg2883His