Canonical Allele Identifier: CA1952850

Gene: LRP2

Linked Data

• dbSNP Id: rs752745500
• ExAC: 2:170010974 G / T
• gnomAD v2: 2-170010974-G-T
• gnomAD v4: 2-169154464-G-T
• MyVariant Identifiers: chr2:g.170010974G>T (hg19) ; chr2:g.169154464G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154464G>T , CM000664.2:g.169154464G>T	GRCh38
NC_000002.11:g.170010974G>T , CM000664.1:g.170010974G>T	GRCh37
NC_000002.10:g.169719220G>T	NCBI36
NG_012634.1:g.213149C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12291C>A MANE Select	ENSP00000496870.1:p.Gly4097=
ENST00000649153.1:c.3191C>A
ENST00000650252.1:c.1319C>A	ENSP00000496887.1:n.1319C>A
ENST00000263816.7:c.12291C>A	ENSP00000263816.3:p.Gly4097=
NM_004525.2:c.12291C>A	NP_004516.2:p.Gly4097=
XM_011511183.1:c.12162C>A	XP_011509485.1:p.Gly4054=
XM_011511184.1:c.10002C>A	XP_011509486.1:p.Gly3334=
NM_004525.3:c.12291C>A MANE Select	NP_004516.2:p.Gly4097=
XM_011511183.3:c.12162C>A	XP_011509485.1:p.Gly4054=
XM_011511184.2:c.10002C>A	XP_011509486.1:p.Gly3334=