Canonical Allele Identifier: CA349137003

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154477-G-T
• MyVariant Identifiers: chr2:g.170010987G>T (hg19) ; chr2:g.169154477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154477G>T , CM000664.2:g.169154477G>T	GRCh38
NC_000002.11:g.170010987G>T , CM000664.1:g.170010987G>T	GRCh37
NC_000002.10:g.169719233G>T	NCBI36
NG_012634.1:g.213136C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12278C>A MANE Select	ENSP00000496870.1:p.Pro4093His
ENST00000649153.1:c.3178C>A
ENST00000650252.1:c.1306C>A	ENSP00000496887.1:p.Pro436Thr
ENST00000263816.7:c.12278C>A	ENSP00000263816.3:p.Pro4093His
NM_004525.2:c.12278C>A	NP_004516.2:p.Pro4093His
XM_011511183.1:c.12149C>A	XP_011509485.1:p.Pro4050His
XM_011511184.1:c.9989C>A	XP_011509486.1:p.Pro3330His
NM_004525.3:c.12278C>A MANE Select	NP_004516.2:p.Pro4093His
XM_011511183.3:c.12149C>A	XP_011509485.1:p.Pro4050His
XM_011511184.2:c.9989C>A	XP_011509486.1:p.Pro3330His