Canonical Allele Identifier: CA349149453

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.169985578A>T (hg19) ; chr2:g.169129068A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169129068A>T , CM000664.2:g.169129068A>T	GRCh38
NC_000002.11:g.169985578A>T , CM000664.1:g.169985578A>T	GRCh37
NC_000002.10:g.169693824A>T	NCBI36
NG_012634.1:g.238545T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13745T>A MANE Select	ENSP00000496870.1:p.Leu4582His
ENST00000649153.1:c.4554T>A
ENST00000650252.1:c.2736T>A	ENSP00000496887.1:n.2736T>A
ENST00000263816.7:c.13745T>A	ENSP00000263816.3:p.Leu4582His
NM_004525.2:c.13745T>A	NP_004516.2:p.Leu4582His
XM_011511183.1:c.13616T>A	XP_011509485.1:p.Leu4539His
XM_011511184.1:c.11456T>A	XP_011509486.1:p.Leu3819His
NM_004525.3:c.13745T>A MANE Select	NP_004516.2:p.Leu4582His
XM_011511183.3:c.13616T>A	XP_011509485.1:p.Leu4539His
XM_011511184.2:c.11456T>A	XP_011509486.1:p.Leu3819His