Canonical Allele Identifier: CA59921275

Gene: LRP2

Linked Data

• dbSNP Id: rs973626263
• gnomAD v3: 2-169259568-CCACCCGGAGACGGCTCTGAT-C
• gnomAD v4: 2-169259568-CCACCCGGAGACGGCTCTGAT-C
• MyVariant Identifiers: chr2:g.170116079_170116098del (hg19) ; chr2:g.169259569_169259588del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259569_169259588del , CM000664.2:g.169259569_169259588del	GRCh38
NC_000002.11:g.170116079_170116098del , CM000664.1:g.170116079_170116098del	GRCh37
NC_000002.10:g.169824325_169824344del	NCBI36
NG_012634.1:g.108025_108044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2321-371_2321-352del MANE Select	ENSP00000496870.1:n.2321-371_2321-352del
ENST00000263816.7:c.2321-371_2321-352del	ENSP00000263816.3:n.2321-371_2321-352del
ENST00000443831.1:c.1910-371_1910-352del	ENSP00000409813.1:n.1910-371_1910-352del
NM_004525.2:c.2321-371_2321-352del	NP_004516.2:n.2321-371_2321-352del
XM_011511183.1:c.2321-371_2321-352del	XP_011509485.1:n.2321-371_2321-352del
XM_011511184.1:c.32-371_32-352del	XP_011509486.1:n.32-371_32-352del
XM_011511185.1:c.2321-371_2321-352del	XP_011509487.1:n.2321-371_2321-352del
NM_004525.3:c.2321-371_2321-352del MANE Select	NP_004516.2:n.2321-371_2321-352del
XM_011511183.3:c.2321-371_2321-352del	XP_011509485.1:n.2321-371_2321-352del
XM_011511184.2:c.32-371_32-352del	XP_011509486.1:n.32-371_32-352del