Canonical Allele Identifier: CA658657122

Gene: LRP2

Linked Data

• ClinVar Variation Id: 452405
• ClinVar RCV Id: RCV000522810
• dbSNP Id: rs1553504456
• MyVariant Identifiers: chr2:g.170115574del (hg19) ; chr2:g.169259064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259066del , CM000664.2:g.169259066del	GRCh38
NC_000002.11:g.170115576del , CM000664.1:g.170115576del	GRCh37
NC_000002.10:g.169823822del	NCBI36
NG_012634.1:g.108549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2474del MANE Select	ENSP00000496870.1:p.Leu825Ter
ENST00000263816.7:c.2474del	ENSP00000263816.3:p.Leu825Ter
ENST00000443831.1:c.2063del	ENSP00000409813.1:p.Leu688Ter
NM_004525.2:c.2474del	NP_004516.2:p.Leu825Ter
XM_011511183.1:c.2474del	XP_011509485.1:p.Leu825Ter
XM_011511184.1:c.185del	XP_011509486.1:p.Leu62Ter
XM_011511185.1:c.2474del	XP_011509487.1:p.Leu825Ter
NM_004525.3:c.2474del MANE Select	NP_004516.2:p.Leu825Ter
XM_011511183.3:c.2474del	XP_011509485.1:p.Leu825Ter
XM_011511184.2:c.185del	XP_011509486.1:p.Leu62Ter