Canonical Allele Identifier: CA16604061

Gene: LRP2

Linked Data

• ClinVar Variation Id: 380563
• ClinVar RCV Id: RCV000440469
• dbSNP Id: rs1057520861
• MyVariant Identifiers: chr2:g.170011021C>A (hg19) ; chr2:g.169154511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154511C>A , CM000664.2:g.169154511C>A	GRCh38
NC_000002.11:g.170011021C>A , CM000664.1:g.170011021C>A	GRCh37
NC_000002.10:g.169719267C>A	NCBI36
NG_012634.1:g.213102G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12244G>T MANE Select	ENSP00000496870.1:p.Glu4082Ter
ENST00000649153.1:c.3144G>T
ENST00000650252.1:c.1272G>T	ENSP00000496887.1:p.Arg424Ser
ENST00000263816.7:c.12244G>T	ENSP00000263816.3:p.Glu4082Ter
NM_004525.2:c.12244G>T	NP_004516.2:p.Glu4082Ter
XM_011511183.1:c.12115G>T	XP_011509485.1:p.Glu4039Ter
XM_011511184.1:c.9955G>T	XP_011509486.1:p.Glu3319Ter
NM_004525.3:c.12244G>T MANE Select	NP_004516.2:p.Glu4082Ter
XM_011511183.3:c.12115G>T	XP_011509485.1:p.Glu4039Ter
XM_011511184.2:c.9955G>T	XP_011509486.1:p.Glu3319Ter