Canonical Allele Identifier: CA1952789

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169150994C>A , CM000664.2:g.169150994C>A	GRCh38
NC_000002.11:g.170007504C>A , CM000664.1:g.170007504C>A	GRCh37
NC_000002.10:g.169715750C>A	NCBI36
NG_012634.1:g.216619G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12494G>T MANE Select	ENSP00000496870.1:p.Arg4165Leu
ENST00000649153.1:c.3394G>T
ENST00000650252.1:c.1522G>T	ENSP00000496887.1:n.1522G>T
ENST00000263816.7:c.12494G>T	ENSP00000263816.3:p.Arg4165Leu
NM_004525.2:c.12494G>T	NP_004516.2:p.Arg4165Leu
XM_011511183.1:c.12365G>T	XP_011509485.1:p.Arg4122Leu
XM_011511184.1:c.10205G>T	XP_011509486.1:p.Arg3402Leu
NM_004525.3:c.12494G>T MANE Select	NP_004516.2:p.Arg4165Leu
XM_011511183.3:c.12365G>T	XP_011509485.1:p.Arg4122Leu
XM_011511184.2:c.10205G>T	XP_011509486.1:p.Arg3402Leu