Canonical Allele Identifier: CA760480462

Gene: LRP2

Linked Data

• dbSNP Id: rs1295105553
• gnomAD v3: 2-169259453-CTGACA-C
• gnomAD v4: 2-169259453-CTGACA-C
• MyVariant Identifiers: chr2:g.170115964_170115968del (hg19) ; chr2:g.169259454_169259458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259454_169259458del , CM000664.2:g.169259454_169259458del	GRCh38
NC_000002.11:g.170115964_170115968del , CM000664.1:g.170115964_170115968del	GRCh37
NC_000002.10:g.169824210_169824214del	NCBI36
NG_012634.1:g.108155_108159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2321-241_2321-237del MANE Select	ENSP00000496870.1:n.2321-241_2321-237del
ENST00000263816.7:c.2321-241_2321-237del	ENSP00000263816.3:n.2321-241_2321-237del
ENST00000443831.1:c.1910-241_1910-237del	ENSP00000409813.1:n.1910-241_1910-237del
NM_004525.2:c.2321-241_2321-237del	NP_004516.2:n.2321-241_2321-237del
XM_011511183.1:c.2321-241_2321-237del	XP_011509485.1:n.2321-241_2321-237del
XM_011511184.1:c.32-241_32-237del	XP_011509486.1:n.32-241_32-237del
XM_011511185.1:c.2321-241_2321-237del	XP_011509487.1:n.2321-241_2321-237del
NM_004525.3:c.2321-241_2321-237del MANE Select	NP_004516.2:n.2321-241_2321-237del
XM_011511183.3:c.2321-241_2321-237del	XP_011509485.1:n.2321-241_2321-237del
XM_011511184.2:c.32-241_32-237del	XP_011509486.1:n.32-241_32-237del