Canonical Allele Identifier: CA1955183

Gene: LRP2

Linked Data

• ClinVar Variation Id: 753686
• ClinVar RCV Id: RCV000930944
• dbSNP Id: rs767207407
• ExAC: 2:170103880 T / C
• gnomAD v2: 2-170103880-T-C
• gnomAD v3: 2-169247370-T-C
• gnomAD v4: 2-169247370-T-C
• MyVariant Identifiers: chr2:g.170103880T>C (hg19) ; chr2:g.169247370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247370T>C , CM000664.2:g.169247370T>C	GRCh38
NC_000002.11:g.170103880T>C , CM000664.1:g.170103880T>C	GRCh37
NC_000002.10:g.169812126T>C	NCBI36
NG_012634.1:g.120243A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.2908+8A>G MANE Select	ENSP00000496870.1:n.2908+8A>G
ENST00000263816.7:c.2908+8A>G	ENSP00000263816.3:n.2908+8A>G
ENST00000443831.1:c.2497+8A>G	ENSP00000409813.1:n.2497+8A>G
NM_004525.2:c.2908+8A>G	NP_004516.2:n.2908+8A>G
XM_011511183.1:c.2908+8A>G	XP_011509485.1:n.2908+8A>G
XM_011511184.1:c.619+8A>G	XP_011509486.1:n.619+8A>G
XM_011511185.1:c.2908+8A>G	XP_011509487.1:n.2908+8A>G
NM_004525.3:c.2908+8A>G MANE Select	NP_004516.2:n.2908+8A>G
XM_011511183.3:c.2908+8A>G	XP_011509485.1:n.2908+8A>G
XM_011511184.2:c.619+8A>G	XP_011509486.1:n.619+8A>G