Canonical Allele Identifier: CA59921035

Gene: LRP2

Linked Data

• dbSNP Id: rs557313956
• gnomAD v2: 2-170115425-C-G
• gnomAD v3: 2-169258915-C-G
• gnomAD v4: 2-169258915-C-G
• MyVariant Identifiers: chr2:g.170115425C>G (hg19) ; chr2:g.169258915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169258915C>G , CM000664.2:g.169258915C>G	GRCh38
NC_000002.11:g.170115425C>G , CM000664.1:g.170115425C>G	GRCh37
NC_000002.10:g.169823671C>G	NCBI36
NG_012634.1:g.108698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2513+110G>C MANE Select	ENSP00000496870.1:n.2513+110G>C
ENST00000263816.7:c.2513+110G>C	ENSP00000263816.3:n.2513+110G>C
ENST00000443831.1:c.2102+110G>C	ENSP00000409813.1:n.2102+110G>C
NM_004525.2:c.2513+110G>C	NP_004516.2:n.2513+110G>C
XM_011511183.1:c.2513+110G>C	XP_011509485.1:n.2513+110G>C
XM_011511184.1:c.224+110G>C	XP_011509486.1:n.224+110G>C
XM_011511185.1:c.2513+110G>C	XP_011509487.1:n.2513+110G>C
NM_004525.3:c.2513+110G>C MANE Select	NP_004516.2:n.2513+110G>C
XM_011511183.3:c.2513+110G>C	XP_011509485.1:n.2513+110G>C
XM_011511184.2:c.224+110G>C	XP_011509486.1:n.224+110G>C