Canonical Allele Identifier: CA349137042

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154483-C-A
• MyVariant Identifiers: chr2:g.170010993C>A (hg19) ; chr2:g.169154483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154483C>A , CM000664.2:g.169154483C>A	GRCh38
NC_000002.11:g.170010993C>A , CM000664.1:g.170010993C>A	GRCh37
NC_000002.10:g.169719239C>A	NCBI36
NG_012634.1:g.213130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12272G>T MANE Select	ENSP00000496870.1:p.Trp4091Leu
ENST00000649153.1:c.3172G>T
ENST00000650252.1:c.1300G>T	ENSP00000496887.1:p.Gly434Trp
ENST00000263816.7:c.12272G>T	ENSP00000263816.3:p.Trp4091Leu
NM_004525.2:c.12272G>T	NP_004516.2:p.Trp4091Leu
XM_011511183.1:c.12143G>T	XP_011509485.1:p.Trp4048Leu
XM_011511184.1:c.9983G>T	XP_011509486.1:p.Trp3328Leu
NM_004525.3:c.12272G>T MANE Select	NP_004516.2:p.Trp4091Leu
XM_011511183.3:c.12143G>T	XP_011509485.1:p.Trp4048Leu
XM_011511184.2:c.9983G>T	XP_011509486.1:p.Trp3328Leu