Canonical Allele Identifier: CA760479535

Gene: LRP2

Linked Data

• dbSNP Id: rs1352078136
• gnomAD v3: 2-169258819-A-T
• gnomAD v4: 2-169258819-A-T
• MyVariant Identifiers: chr2:g.170115329A>T (hg19) ; chr2:g.169258819A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169258819A>T , CM000664.2:g.169258819A>T	GRCh38
NC_000002.11:g.170115329A>T , CM000664.1:g.170115329A>T	GRCh37
NC_000002.10:g.169823575A>T	NCBI36
NG_012634.1:g.108794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2513+206T>A MANE Select	ENSP00000496870.1:n.2513+206T>A
ENST00000263816.7:c.2513+206T>A	ENSP00000263816.3:n.2513+206T>A
ENST00000443831.1:c.2102+206T>A	ENSP00000409813.1:n.2102+206T>A
NM_004525.2:c.2513+206T>A	NP_004516.2:n.2513+206T>A
XM_011511183.1:c.2513+206T>A	XP_011509485.1:n.2513+206T>A
XM_011511184.1:c.224+206T>A	XP_011509486.1:n.224+206T>A
XM_011511185.1:c.2513+206T>A	XP_011509487.1:n.2513+206T>A
NM_004525.3:c.2513+206T>A MANE Select	NP_004516.2:n.2513+206T>A
XM_011511183.3:c.2513+206T>A	XP_011509485.1:n.2513+206T>A
XM_011511184.2:c.224+206T>A	XP_011509486.1:n.224+206T>A