Canonical Allele Identifier: CA59919386

Gene: LRP2

Linked Data

• ClinVar Variation Id: 1660307
• ClinVar RCV Id: RCV002183634
• dbSNP Id: rs372525372
• gnomAD v4: 2-169247366-A-G
• MyVariant Identifiers: chr2:g.170103876A>G (hg19) ; chr2:g.169247366A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247366A>G , CM000664.2:g.169247366A>G	GRCh38
NC_000002.11:g.170103876A>G , CM000664.1:g.170103876A>G	GRCh37
NC_000002.10:g.169812122A>G	NCBI36
NG_012634.1:g.120247T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.2908+12T>C MANE Select	ENSP00000496870.1:n.2908+12T>C
ENST00000263816.7:c.2908+12T>C	ENSP00000263816.3:n.2908+12T>C
ENST00000443831.1:c.2497+12T>C	ENSP00000409813.1:n.2497+12T>C
NM_004525.2:c.2908+12T>C	NP_004516.2:n.2908+12T>C
XM_011511183.1:c.2908+12T>C	XP_011509485.1:n.2908+12T>C
XM_011511184.1:c.619+12T>C	XP_011509486.1:n.619+12T>C
XM_011511185.1:c.2908+12T>C	XP_011509487.1:n.2908+12T>C
NM_004525.3:c.2908+12T>C MANE Select	NP_004516.2:n.2908+12T>C
XM_011511183.3:c.2908+12T>C	XP_011509485.1:n.2908+12T>C
XM_011511184.2:c.619+12T>C	XP_011509486.1:n.619+12T>C