Canonical Allele Identifier: CA59895333

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169150731T>A , CM000664.2:g.169150731T>A	GRCh38
NC_000002.11:g.170007241T>A , CM000664.1:g.170007241T>A	GRCh37
NC_000002.10:g.169715487T>A	NCBI36
NG_012634.1:g.216882A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004525.3:c.12590+167A>T MANE Select	NP_004516.2:n.12590+167A>T
ENST00000649046.1:c.12590+167A>T MANE Select	ENSP00000496870.1:n.12590+167A>T
NM_004525.2:c.12590+167A>T	NP_004516.2:n.12590+167A>T
ENST00000263816.7:c.12590+167A>T	ENSP00000263816.3:n.12590+167A>T
ENST00000649153.1:c.3490+167A>T
ENST00000650252.1:c.1618+167A>T	ENSP00000496887.1:n.1618+167A>T
XM_011511183.1:c.12461+167A>T	XP_011509485.1:n.12461+167A>T
XM_011511183.3:c.12461+167A>T	XP_011509485.1:n.12461+167A>T
XM_011511184.1:c.10301+167A>T	XP_011509486.1:n.10301+167A>T
XM_011511184.2:c.10301+167A>T	XP_011509486.1:n.10301+167A>T