Canonical Allele Identifier: CA537540082

Gene: LRP2

Linked Data

• ClinVar Variation Id: 2831257
• ClinVar RCV Id: RCV003686514
• dbSNP Id: rs1175116410
• gnomAD v2: 2-169985502-AG-A
• gnomAD v4: 2-169128992-AG-A
• MyVariant Identifiers: chr2:g.169985503del (hg19) ; chr2:g.169128993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128993del , CM000664.2:g.169128993del	GRCh38
NC_000002.11:g.169985503del , CM000664.1:g.169985503del	GRCh37
NC_000002.10:g.169693749del	NCBI36
NG_012634.1:g.238620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13800+20del MANE Select	ENSP00000496870.1:n.13800+20del
ENST00000649153.1:c.4609+20del
ENST00000650252.1:c.2791+20del	ENSP00000496887.1:n.2791+20del
ENST00000263816.7:c.13800+20del	ENSP00000263816.3:n.13800+20del
NM_004525.2:c.13800+20del	NP_004516.2:n.13800+20del
XM_011511183.1:c.13671+20del	XP_011509485.1:n.13671+20del
XM_011511184.1:c.11511+20del	XP_011509486.1:n.11511+20del
NM_004525.3:c.13800+20del MANE Select	NP_004516.2:n.13800+20del
XM_011511183.3:c.13671+20del	XP_011509485.1:n.13671+20del
XM_011511184.2:c.11511+20del	XP_011509486.1:n.11511+20del