Canonical Allele Identifier: CA1039050759

Gene: LRP2

Linked Data

• dbSNP Id: rs942970145
• gnomAD v3: 2-169247252-G-C
• gnomAD v4: 2-169247252-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247252G>C , CM000664.2:g.169247252G>C	GRCh38
NC_000002.11:g.170103762G>C , CM000664.1:g.170103762G>C	GRCh37
NC_000002.10:g.169812008G>C	NCBI36
NG_012634.1:g.120361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2908+126C>G MANE Select	ENSP00000496870.1:n.2908+126C>G
ENST00000263816.7:c.2908+126C>G	ENSP00000263816.3:n.2908+126C>G
ENST00000443831.1:c.2497+126C>G	ENSP00000409813.1:n.2497+126C>G
NM_004525.2:c.2908+126C>G	NP_004516.2:n.2908+126C>G
XM_011511183.1:c.2908+126C>G	XP_011509485.1:n.2908+126C>G
XM_011511184.1:c.619+126C>G	XP_011509486.1:n.619+126C>G
XM_011511185.1:c.2908+126C>G	XP_011509487.1:n.2908+126C>G
NM_004525.3:c.2908+126C>G MANE Select	NP_004516.2:n.2908+126C>G
XM_011511183.3:c.2908+126C>G	XP_011509485.1:n.2908+126C>G
XM_011511184.2:c.619+126C>G	XP_011509486.1:n.619+126C>G