Canonical Allele Identifier: CA760480388

Gene: LRP2

Linked Data

• dbSNP Id: rs1400109415
• gnomAD v3: 2-169259344-TTAA-T
• gnomAD v4: 2-169259344-TTAA-T
• MyVariant Identifiers: chr2:g.170115855_170115857del (hg19) ; chr2:g.169259345_169259347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259345_169259347del , CM000664.2:g.169259345_169259347del	GRCh38
NC_000002.11:g.170115855_170115857del , CM000664.1:g.170115855_170115857del	GRCh37
NC_000002.10:g.169824101_169824103del	NCBI36
NG_012634.1:g.108266_108268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2321-130_2321-128del MANE Select	ENSP00000496870.1:n.2321-130_2321-128del
ENST00000263816.7:c.2321-130_2321-128del	ENSP00000263816.3:n.2321-130_2321-128del
ENST00000443831.1:c.1910-130_1910-128del	ENSP00000409813.1:n.1910-130_1910-128del
NM_004525.2:c.2321-130_2321-128del	NP_004516.2:n.2321-130_2321-128del
XM_011511183.1:c.2321-130_2321-128del	XP_011509485.1:n.2321-130_2321-128del
XM_011511184.1:c.32-130_32-128del	XP_011509486.1:n.32-130_32-128del
XM_011511185.1:c.2321-130_2321-128del	XP_011509487.1:n.2321-130_2321-128del
NM_004525.3:c.2321-130_2321-128del MANE Select	NP_004516.2:n.2321-130_2321-128del
XM_011511183.3:c.2321-130_2321-128del	XP_011509485.1:n.2321-130_2321-128del
XM_011511184.2:c.32-130_32-128del	XP_011509486.1:n.32-130_32-128del