Canonical Allele Identifier: CA349158125

Gene: LRP2

Linked Data

• gnomAD v4: 2-169259062-T-G
• MyVariant Identifiers: chr2:g.170115572T>G (hg19) ; chr2:g.169259062T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259062T>G , CM000664.2:g.169259062T>G	GRCh38
NC_000002.11:g.170115572T>G , CM000664.1:g.170115572T>G	GRCh37
NC_000002.10:g.169823818T>G	NCBI36
NG_012634.1:g.108551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2476A>C MANE Select	ENSP00000496870.1:p.Asn826His
ENST00000263816.7:c.2476A>C	ENSP00000263816.3:p.Asn826His
ENST00000443831.1:c.2065A>C	ENSP00000409813.1:p.Asn689His
NM_004525.2:c.2476A>C	NP_004516.2:p.Asn826His
XM_011511183.1:c.2476A>C	XP_011509485.1:p.Asn826His
XM_011511184.1:c.187A>C	XP_011509486.1:p.Asn63His
XM_011511185.1:c.2476A>C	XP_011509487.1:p.Asn826His
NM_004525.3:c.2476A>C MANE Select	NP_004516.2:p.Asn826His
XM_011511183.3:c.2476A>C	XP_011509485.1:p.Asn826His
XM_011511184.2:c.187A>C	XP_011509486.1:p.Asn63His