Canonical Allele Identifier: CA349137343

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011045A>G (hg19) ; chr2:g.169154535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154535A>G , CM000664.2:g.169154535A>G	GRCh38
NC_000002.11:g.170011045A>G , CM000664.1:g.170011045A>G	GRCh37
NC_000002.10:g.169719291A>G	NCBI36
NG_012634.1:g.213078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12220T>C MANE Select	ENSP00000496870.1:p.Phe4074Leu
ENST00000649153.1:c.3120T>C
ENST00000650252.1:c.1248T>C	ENSP00000496887.1:p.Gly416=
ENST00000263816.7:c.12220T>C	ENSP00000263816.3:p.Phe4074Leu
NM_004525.2:c.12220T>C	NP_004516.2:p.Phe4074Leu
XM_011511183.1:c.12091T>C	XP_011509485.1:p.Phe4031Leu
XM_011511184.1:c.9931T>C	XP_011509486.1:p.Phe3311Leu
NM_004525.3:c.12220T>C MANE Select	NP_004516.2:p.Phe4074Leu
XM_011511183.3:c.12091T>C	XP_011509485.1:p.Phe4031Leu
XM_011511184.2:c.9931T>C	XP_011509486.1:p.Phe3311Leu