Canonical Allele Identifier: CA760480371

Gene: LRP2

Linked Data

• dbSNP Id: rs1290671033
• gnomAD v3: 2-169259307-GAGTT-G
• gnomAD v4: 2-169259307-GAGTT-G
• MyVariant Identifiers: chr2:g.170115818_170115821del (hg19) ; chr2:g.169259308_169259311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259310_169259313del , CM000664.2:g.169259310_169259313del	GRCh38
NC_000002.11:g.170115820_170115823del , CM000664.1:g.170115820_170115823del	GRCh37
NC_000002.10:g.169824066_169824069del	NCBI36
NG_012634.1:g.108302_108305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2321-94_2321-91del MANE Select	ENSP00000496870.1:n.2321-94_2321-91del
ENST00000263816.7:c.2321-94_2321-91del	ENSP00000263816.3:n.2321-94_2321-91del
ENST00000443831.1:c.1910-94_1910-91del	ENSP00000409813.1:n.1910-94_1910-91del
NM_004525.2:c.2321-94_2321-91del	NP_004516.2:n.2321-94_2321-91del
XM_011511183.1:c.2321-94_2321-91del	XP_011509485.1:n.2321-94_2321-91del
XM_011511184.1:c.32-94_32-91del	XP_011509486.1:n.32-94_32-91del
XM_011511185.1:c.2321-94_2321-91del	XP_011509487.1:n.2321-94_2321-91del
NM_004525.3:c.2321-94_2321-91del MANE Select	NP_004516.2:n.2321-94_2321-91del
XM_011511183.3:c.2321-94_2321-91del	XP_011509485.1:n.2321-94_2321-91del
XM_011511184.2:c.32-94_32-91del	XP_011509486.1:n.32-94_32-91del