Canonical Allele Identifier: CA537540077

Gene: LRP2

Linked Data

• dbSNP Id: rs1261786524
• gnomAD v2: 2-169985485-A-G
• gnomAD v4: 2-169128975-A-G
• MyVariant Identifiers: chr2:g.169985485A>G (hg19) ; chr2:g.169128975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128975A>G , CM000664.2:g.169128975A>G	GRCh38
NC_000002.11:g.169985485A>G , CM000664.1:g.169985485A>G	GRCh37
NC_000002.10:g.169693731A>G	NCBI36
NG_012634.1:g.238638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13800+38T>C MANE Select	ENSP00000496870.1:n.13800+38T>C
ENST00000649153.1:c.4609+38T>C
ENST00000650252.1:c.2791+38T>C	ENSP00000496887.1:n.2791+38T>C
ENST00000263816.7:c.13800+38T>C	ENSP00000263816.3:n.13800+38T>C
NM_004525.2:c.13800+38T>C	NP_004516.2:n.13800+38T>C
XM_011511183.1:c.13671+38T>C	XP_011509485.1:n.13671+38T>C
XM_011511184.1:c.11511+38T>C	XP_011509486.1:n.11511+38T>C
NM_004525.3:c.13800+38T>C MANE Select	NP_004516.2:n.13800+38T>C
XM_011511183.3:c.13671+38T>C	XP_011509485.1:n.13671+38T>C
XM_011511184.2:c.11511+38T>C	XP_011509486.1:n.11511+38T>C