Canonical Allele Identifier: CA537540950

Gene: LRP2

Linked Data

• dbSNP Id: rs1250088097
• gnomAD v2: 2-170010923-T-C
• gnomAD v4: 2-169154413-T-C
• MyVariant Identifiers: chr2:g.170010923T>C (hg19) ; chr2:g.169154413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154413T>C , CM000664.2:g.169154413T>C	GRCh38
NC_000002.11:g.170010923T>C , CM000664.1:g.170010923T>C	GRCh37
NC_000002.10:g.169719169T>C	NCBI36
NG_012634.1:g.213200A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12295+47A>G MANE Select	ENSP00000496870.1:n.12295+47A>G
ENST00000649153.1:c.3195+47A>G
ENST00000650252.1:c.1323+47A>G	ENSP00000496887.1:n.1323+47A>G
ENST00000263816.7:c.12295+47A>G	ENSP00000263816.3:n.12295+47A>G
NM_004525.2:c.12295+47A>G	NP_004516.2:n.12295+47A>G
XM_011511183.1:c.12166+47A>G	XP_011509485.1:n.12166+47A>G
XM_011511184.1:c.10006+47A>G	XP_011509486.1:n.10006+47A>G
NM_004525.3:c.12295+47A>G MANE Select	NP_004516.2:n.12295+47A>G
XM_011511183.3:c.12166+47A>G	XP_011509485.1:n.12166+47A>G
XM_011511184.2:c.10006+47A>G	XP_011509486.1:n.10006+47A>G