Canonical Allele Identifier: CA1952695

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169145777T>C , CM000664.2:g.169145777T>C	GRCh38
NC_000002.11:g.170002287T>C , CM000664.1:g.170002287T>C	GRCh37
NC_000002.10:g.169710533T>C	NCBI36
NG_012634.1:g.221836A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12958A>G MANE Select	ENSP00000496870.1:p.Ile4320Val
ENST00000649153.1:c.3858A>G
ENST00000650252.1:c.1986A>G	ENSP00000496887.1:n.1986A>G
ENST00000263816.7:c.12958A>G	ENSP00000263816.3:p.Ile4320Val
NM_004525.2:c.12958A>G	NP_004516.2:p.Ile4320Val
XM_011511183.1:c.12829A>G	XP_011509485.1:p.Ile4277Val
XM_011511184.1:c.10669A>G	XP_011509486.1:p.Ile3557Val
NM_004525.3:c.12958A>G MANE Select	NP_004516.2:p.Ile4320Val
XM_011511183.3:c.12829A>G	XP_011509485.1:p.Ile4277Val
XM_011511184.2:c.10669A>G	XP_011509486.1:p.Ile3557Val