Canonical Allele Identifier: CA349152388

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170139479C>T (hg19) ; chr2:g.169282969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169282969C>T , CM000664.2:g.169282969C>T	GRCh38
NC_000002.11:g.170139479C>T , CM000664.1:g.170139479C>T	GRCh37
NC_000002.10:g.169847725C>T	NCBI36
NG_012634.1:g.84644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.1075G>A MANE Select	ENSP00000496870.1:p.Asp359Asn
ENST00000263816.7:c.1075G>A	ENSP00000263816.3:p.Asp359Asn
ENST00000443831.1:c.1075G>A	ENSP00000409813.1:p.Asp359Asn
NM_004525.2:c.1075G>A	NP_004516.2:p.Asp359Asn
XM_011511183.1:c.1075G>A	XP_011509485.1:p.Asp359Asn
XM_011511185.1:c.1075G>A	XP_011509487.1:p.Asp359Asn
NM_004525.3:c.1075G>A MANE Select	NP_004516.2:p.Asp359Asn
XM_011511183.3:c.1075G>A	XP_011509485.1:p.Asp359Asn