Canonical Allele Identifier: CA2661815131

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154483-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154484_169154485del , CM000664.2:g.169154484_169154485del	GRCh38
NC_000002.11:g.170010994_170010995del , CM000664.1:g.170010994_170010995del	GRCh37
NC_000002.10:g.169719240_169719241del	NCBI36
NG_012634.1:g.213128_213129del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12270_12271del MANE Select	ENSP00000496870.1:p.Asp4090GlufsTer21
ENST00000649153.1:c.3170_3171del
ENST00000650252.1:c.1298_1299del	ENSP00000496887.1:p.Ile433ArgfsTer?
ENST00000263816.7:c.12270_12271del	ENSP00000263816.3:p.Asp4090GlufsTer21
NM_004525.2:c.12270_12271del	NP_004516.2:p.Asp4090GlufsTer21
XM_011511183.1:c.12141_12142del	XP_011509485.1:p.Asp4047GlufsTer21
XM_011511184.1:c.9981_9982del	XP_011509486.1:p.Asp3327GlufsTer21
NM_004525.3:c.12270_12271del MANE Select	NP_004516.2:p.Asp4090GlufsTer21
XM_011511183.3:c.12141_12142del	XP_011509485.1:p.Asp4047GlufsTer21
XM_011511184.2:c.9981_9982del	XP_011509486.1:p.Asp3327GlufsTer21