Canonical Allele Identifier: CA760469615

Gene: LRP2

Linked Data

• dbSNP Id: rs1221571073
• gnomAD v3: 2-169154242-ACCCCAGTGATC-A
• gnomAD v4: 2-169154242-ACCCCAGTGATC-A
• MyVariant Identifiers: chr2:g.170010753_170010763del (hg19) ; chr2:g.169154243_169154253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154243_169154253del , CM000664.2:g.169154243_169154253del	GRCh38
NC_000002.11:g.170010753_170010763del , CM000664.1:g.170010753_170010763del	GRCh37
NC_000002.10:g.169718999_169719009del	NCBI36
NG_012634.1:g.213360_213370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12295+207_12295+217del MANE Select	ENSP00000496870.1:n.12295+207_12295+217del
ENST00000649153.1:c.3195+207_3195+217del
ENST00000650252.1:c.1323+207_1323+217del	ENSP00000496887.1:n.1323+207_1323+217del
ENST00000263816.7:c.12295+207_12295+217del	ENSP00000263816.3:n.12295+207_12295+217del
NM_004525.2:c.12295+207_12295+217del	NP_004516.2:n.12295+207_12295+217del
XM_011511183.1:c.12166+207_12166+217del	XP_011509485.1:n.12166+207_12166+217del
XM_011511184.1:c.10006+207_10006+217del	XP_011509486.1:n.10006+207_10006+217del
NM_004525.3:c.12295+207_12295+217del MANE Select	NP_004516.2:n.12295+207_12295+217del
XM_011511183.3:c.12166+207_12166+217del	XP_011509485.1:n.12166+207_12166+217del
XM_011511184.2:c.10006+207_10006+217del	XP_011509486.1:n.10006+207_10006+217del