Canonical Allele Identifier: CA349137319

Gene: LRP2

Linked Data

• dbSNP Id: rs1199416997
• gnomAD v3: 2-169154529-C-G
• gnomAD v4: 2-169154529-C-G
• MyVariant Identifiers: chr2:g.170011039C>G (hg19) ; chr2:g.169154529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154529C>G , CM000664.2:g.169154529C>G	GRCh38
NC_000002.11:g.170011039C>G , CM000664.1:g.170011039C>G	GRCh37
NC_000002.10:g.169719285C>G	NCBI36
NG_012634.1:g.213084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12226G>C MANE Select	ENSP00000496870.1:p.Glu4076Gln
ENST00000649153.1:c.3126G>C
ENST00000650252.1:c.1254G>C	ENSP00000496887.1:p.Gln418His
ENST00000263816.7:c.12226G>C	ENSP00000263816.3:p.Glu4076Gln
NM_004525.2:c.12226G>C	NP_004516.2:p.Glu4076Gln
XM_011511183.1:c.12097G>C	XP_011509485.1:p.Glu4033Gln
XM_011511184.1:c.9937G>C	XP_011509486.1:p.Glu3313Gln
NM_004525.3:c.12226G>C MANE Select	NP_004516.2:p.Glu4076Gln
XM_011511183.3:c.12097G>C	XP_011509485.1:p.Glu4033Gln
XM_011511184.2:c.9937G>C	XP_011509486.1:p.Glu3313Gln