Canonical Allele Identifier: CA349148929

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128828C>G , CM000664.2:g.169128828C>G	GRCh38
NC_000002.11:g.169985338C>G , CM000664.1:g.169985338C>G	GRCh37
NC_000002.10:g.169693584C>G	NCBI36
NG_012634.1:g.238785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13803G>C MANE Select	ENSP00000496870.1:p.Met4601Ile
ENST00000649153.1:c.4612G>C
ENST00000650252.1:c.2794G>C	ENSP00000496887.1:n.2794G>C
ENST00000263816.7:c.13803G>C	ENSP00000263816.3:p.Met4601Ile
NM_004525.2:c.13803G>C	NP_004516.2:p.Met4601Ile
XM_011511183.1:c.13674G>C	XP_011509485.1:p.Met4558Ile
XM_011511184.1:c.11514G>C	XP_011509486.1:p.Met3838Ile
NM_004525.3:c.13803G>C MANE Select	NP_004516.2:p.Met4601Ile
XM_011511183.3:c.13674G>C	XP_011509485.1:p.Met4558Ile
XM_011511184.2:c.11514G>C	XP_011509486.1:p.Met3838Ile