Canonical Allele Identifier: CA349147391

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128664T>C , CM000664.2:g.169128664T>C	GRCh38
NC_000002.11:g.169985174T>C , CM000664.1:g.169985174T>C	GRCh37
NC_000002.10:g.169693420T>C	NCBI36
NG_012634.1:g.238949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13967A>G MANE Select	ENSP00000496870.1:p.Ter4656Trp
ENST00000649153.1:c.4776A>G
ENST00000650252.1:c.2958A>G	ENSP00000496887.1:n.2958A>G
ENST00000263816.7:c.13967A>G	ENSP00000263816.3:p.Ter4656Trp
NM_004525.2:c.13967A>G	NP_004516.2:p.Ter4656Trp
XM_011511183.1:c.13838A>G	XP_011509485.1:p.Ter4613Trp
XM_011511184.1:c.11678A>G	XP_011509486.1:p.Ter3893Trp
NM_004525.3:c.13967A>G MANE Select	NP_004516.2:p.Ter4656Trp
XM_011511183.3:c.13838A>G	XP_011509485.1:p.Ter4613Trp
XM_011511184.2:c.11678A>G	XP_011509486.1:p.Ter3893Trp