Canonical Allele Identifier: CA349158335

Gene: LRP2

Linked Data

• dbSNP Id: rs1690430352
• gnomAD v4: 2-169259111-A-T
• MyVariant Identifiers: chr2:g.170115621A>T (hg19) ; chr2:g.169259111A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259111A>T , CM000664.2:g.169259111A>T	GRCh38
NC_000002.11:g.170115621A>T , CM000664.1:g.170115621A>T	GRCh37
NC_000002.10:g.169823867A>T	NCBI36
NG_012634.1:g.108502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2427T>A MANE Select	ENSP00000496870.1:p.Ser809Arg
ENST00000263816.7:c.2427T>A	ENSP00000263816.3:p.Ser809Arg
ENST00000443831.1:c.2016T>A	ENSP00000409813.1:p.Ser672Arg
NM_004525.2:c.2427T>A	NP_004516.2:p.Ser809Arg
XM_011511183.1:c.2427T>A	XP_011509485.1:p.Ser809Arg
XM_011511184.1:c.138T>A	XP_011509486.1:p.Ser46Arg
XM_011511185.1:c.2427T>A	XP_011509487.1:p.Ser809Arg
NM_004525.3:c.2427T>A MANE Select	NP_004516.2:p.Ser809Arg
XM_011511183.3:c.2427T>A	XP_011509485.1:p.Ser809Arg
XM_011511184.2:c.138T>A	XP_011509486.1:p.Ser46Arg