Canonical Allele Identifier: CA349136910

Gene: LRP2

Linked Data

• dbSNP Id: rs2105358762
• MyVariant Identifiers: chr2:g.170010972A>T (hg19) ; chr2:g.169154462A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154462A>T , CM000664.2:g.169154462A>T	GRCh38
NC_000002.11:g.170010972A>T , CM000664.1:g.170010972A>T	GRCh37
NC_000002.10:g.169719218A>T	NCBI36
NG_012634.1:g.213151T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12293T>A MANE Select	ENSP00000496870.1:p.Leu4098His
ENST00000649153.1:c.3193T>A
ENST00000650252.1:c.1321T>A	ENSP00000496887.1:n.1321T>A
ENST00000263816.7:c.12293T>A	ENSP00000263816.3:p.Leu4098His
NM_004525.2:c.12293T>A	NP_004516.2:p.Leu4098His
XM_011511183.1:c.12164T>A	XP_011509485.1:p.Leu4055His
XM_011511184.1:c.10004T>A	XP_011509486.1:p.Leu3335His
NM_004525.3:c.12293T>A MANE Select	NP_004516.2:p.Leu4098His
XM_011511183.3:c.12164T>A	XP_011509485.1:p.Leu4055His
XM_011511184.2:c.10004T>A	XP_011509486.1:p.Leu3335His