Canonical Allele Identifier: CA1952419

Gene: LRP2

Linked Data

• dbSNP Id: rs746649065
• ExAC: 2:169985496 G / A
• gnomAD v2: 2-169985496-G-A
• gnomAD v4: 2-169128986-G-A
• MyVariant Identifiers: chr2:g.169985496G>A (hg19) ; chr2:g.169128986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128986G>A , CM000664.2:g.169128986G>A	GRCh38
NC_000002.11:g.169985496G>A , CM000664.1:g.169985496G>A	GRCh37
NC_000002.10:g.169693742G>A	NCBI36
NG_012634.1:g.238627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13800+27C>T MANE Select	ENSP00000496870.1:n.13800+27C>T
ENST00000649153.1:c.4609+27C>T
ENST00000650252.1:c.2791+27C>T	ENSP00000496887.1:n.2791+27C>T
ENST00000263816.7:c.13800+27C>T	ENSP00000263816.3:n.13800+27C>T
NM_004525.2:c.13800+27C>T	NP_004516.2:n.13800+27C>T
XM_011511183.1:c.13671+27C>T	XP_011509485.1:n.13671+27C>T
XM_011511184.1:c.11511+27C>T	XP_011509486.1:n.11511+27C>T
NM_004525.3:c.13800+27C>T MANE Select	NP_004516.2:n.13800+27C>T
XM_011511183.3:c.13671+27C>T	XP_011509485.1:n.13671+27C>T
XM_011511184.2:c.11511+27C>T	XP_011509486.1:n.11511+27C>T