Canonical Allele Identifier: CA349137449

Gene: LRP2

Linked Data

• dbSNP Id: rs1228784624
• gnomAD v2: 2-170011072-G-A
• gnomAD v4: 2-169154562-G-A
• MyVariant Identifiers: chr2:g.170011072G>A (hg19) ; chr2:g.169154562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154562G>A , CM000664.2:g.169154562G>A	GRCh38
NC_000002.11:g.170011072G>A , CM000664.1:g.170011072G>A	GRCh37
NC_000002.10:g.169719318G>A	NCBI36
NG_012634.1:g.213051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12193C>T MANE Select	ENSP00000496870.1:p.Arg4065Ter
ENST00000649153.1:c.3093C>T
ENST00000650252.1:c.1221C>T	ENSP00000496887.1:p.Phe407=
ENST00000263816.7:c.12193C>T	ENSP00000263816.3:p.Arg4065Ter
NM_004525.2:c.12193C>T	NP_004516.2:p.Arg4065Ter
XM_011511183.1:c.12064C>T	XP_011509485.1:p.Arg4022Ter
XM_011511184.1:c.9904C>T	XP_011509486.1:p.Arg3302Ter
NM_004525.3:c.12193C>T MANE Select	NP_004516.2:p.Arg4065Ter
XM_011511183.3:c.12064C>T	XP_011509485.1:p.Arg4022Ter
XM_011511184.2:c.9904C>T	XP_011509486.1:p.Arg3302Ter