Canonical Allele Identifier: CA537540076
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs1558966509
gnomAD v2: 2-169985484-G-GA
gnomAD v4: 2-169128974-G-GA
MyVariant Identifiers: chr2:g.169985484_169985485insA (hg19) chr2:g.169128974_169128975insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169128980dup , CM000664.2:g.169128980dup GRCh38
NC_000002.11:g.169985490dup , CM000664.1:g.169985490dup GRCh37
NC_000002.10:g.169693736dup NCBI36
NG_012634.1:g.238638dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.13800+38dup MANE Select ENSP00000496870.1:n.13800+38dup
ENST00000649153.1:c.4609+38dup
ENST00000650252.1:c.2791+38dup ENSP00000496887.1:n.2791+38dup
ENST00000263816.7:c.13800+38dup ENSP00000263816.3:n.13800+38dup
NM_004525.2:c.13800+38dup NP_004516.2:n.13800+38dup
XM_011511183.1:c.13671+38dup XP_011509485.1:n.13671+38dup
XM_011511184.1:c.11511+38dup XP_011509486.1:n.11511+38dup
NM_004525.3:c.13800+38dup MANE Select NP_004516.2:n.13800+38dup
XM_011511183.3:c.13671+38dup XP_011509485.1:n.13671+38dup
XM_011511184.2:c.11511+38dup XP_011509486.1:n.11511+38dup
Search 100 bp 5'
Search 100 bp 3'