Canonical Allele Identifier: CA760474821

Gene: LRP2

Linked Data

• ClinVar Variation Id: 2054381
• ClinVar RCV Id: RCV002927950
• dbSNP Id: rs1214739184
• gnomAD v3: 2-169247364-G-C
• gnomAD v4: 2-169247364-G-C
• MyVariant Identifiers: chr2:g.170103874G>C (hg19) ; chr2:g.169247364G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247364G>C , CM000664.2:g.169247364G>C	GRCh38
NC_000002.11:g.170103874G>C , CM000664.1:g.170103874G>C	GRCh37
NC_000002.10:g.169812120G>C	NCBI36
NG_012634.1:g.120249C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.2908+14C>G MANE Select	ENSP00000496870.1:n.2908+14C>G
ENST00000263816.7:c.2908+14C>G	ENSP00000263816.3:n.2908+14C>G
ENST00000443831.1:c.2497+14C>G	ENSP00000409813.1:n.2497+14C>G
NM_004525.2:c.2908+14C>G	NP_004516.2:n.2908+14C>G
XM_011511183.1:c.2908+14C>G	XP_011509485.1:n.2908+14C>G
XM_011511184.1:c.619+14C>G	XP_011509486.1:n.619+14C>G
XM_011511185.1:c.2908+14C>G	XP_011509487.1:n.2908+14C>G
NM_004525.3:c.2908+14C>G MANE Select	NP_004516.2:n.2908+14C>G
XM_011511183.3:c.2908+14C>G	XP_011509485.1:n.2908+14C>G
XM_011511184.2:c.619+14C>G	XP_011509486.1:n.619+14C>G