Canonical Allele Identifier: CA537972011

Gene: LRP2

Linked Data

• dbSNP Id: rs1478220632
• gnomAD v2: 2-170115747-CAT-C
• gnomAD v4: 2-169259237-CAT-C
• MyVariant Identifiers: chr2:g.170115748_170115749del (hg19) ; chr2:g.169259238_169259239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259240_169259241del , CM000664.2:g.169259240_169259241del	GRCh38
NC_000002.11:g.170115750_170115751del , CM000664.1:g.170115750_170115751del	GRCh37
NC_000002.10:g.169823996_169823997del	NCBI36
NG_012634.1:g.108374_108375del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.2321-22_2321-21del MANE Select	ENSP00000496870.1:n.2321-22_2321-21del
ENST00000263816.7:c.2321-22_2321-21del	ENSP00000263816.3:n.2321-22_2321-21del
ENST00000443831.1:c.1910-22_1910-21del	ENSP00000409813.1:n.1910-22_1910-21del
NM_004525.2:c.2321-22_2321-21del	NP_004516.2:n.2321-22_2321-21del
XM_011511183.1:c.2321-22_2321-21del	XP_011509485.1:n.2321-22_2321-21del
XM_011511184.1:c.32-22_32-21del	XP_011509486.1:n.32-22_32-21del
XM_011511185.1:c.2321-22_2321-21del	XP_011509487.1:n.2321-22_2321-21del
NM_004525.3:c.2321-22_2321-21del MANE Select	NP_004516.2:n.2321-22_2321-21del
XM_011511183.3:c.2321-22_2321-21del	XP_011509485.1:n.2321-22_2321-21del
XM_011511184.2:c.32-22_32-21del	XP_011509486.1:n.32-22_32-21del