Canonical Allele Identifier: CA1952416

Gene: LRP2

Linked Data

• dbSNP Id: rs757881928
• ExAC: 2:169985484 G / T
• gnomAD v2: 2-169985484-G-T
• gnomAD v3: 2-169128974-G-T
• gnomAD v4: 2-169128974-G-T
• MyVariant Identifiers: chr2:g.169985484G>T (hg19) ; chr2:g.169128974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128974G>T , CM000664.2:g.169128974G>T	GRCh38
NC_000002.11:g.169985484G>T , CM000664.1:g.169985484G>T	GRCh37
NC_000002.10:g.169693730G>T	NCBI36
NG_012634.1:g.238639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13800+39C>A MANE Select	ENSP00000496870.1:n.13800+39C>A
ENST00000649153.1:c.4609+39C>A
ENST00000650252.1:c.2791+39C>A	ENSP00000496887.1:n.2791+39C>A
ENST00000263816.7:c.13800+39C>A	ENSP00000263816.3:n.13800+39C>A
NM_004525.2:c.13800+39C>A	NP_004516.2:n.13800+39C>A
XM_011511183.1:c.13671+39C>A	XP_011509485.1:n.13671+39C>A
XM_011511184.1:c.11511+39C>A	XP_011509486.1:n.11511+39C>A
NM_004525.3:c.13800+39C>A MANE Select	NP_004516.2:n.13800+39C>A
XM_011511183.3:c.13671+39C>A	XP_011509485.1:n.13671+39C>A
XM_011511184.2:c.11511+39C>A	XP_011509486.1:n.11511+39C>A