Canonical Allele Identifier: CA1306305462
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs1686255176

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154348_169154349insGCTGCGTCAGA , CM000664.2:g.169154348_169154349insGCTGCGTCAGA GRCh38
NC_000002.11:g.170010858_170010859insGCTGCGTCAGA , CM000664.1:g.170010858_170010859insGCTGCGTCAGA GRCh37
NC_000002.10:g.169719104_169719105insGCTGCGTCAGA NCBI36
NG_012634.1:g.213264_213265insTCTGACGCAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.12295+111_12295+112insTCTGACGCAGC MANE Select ENSP00000496870.1:n.12295+111_12295+112in...
ENST00000649153.1:c.3195+111_3195+112insTCTGACGCAGC
ENST00000650252.1:c.1323+111_1323+112insTCTGACGCAGC ENSP00000496887.1:n.1323+111_1323+112insT...
ENST00000263816.7:c.12295+111_12295+112insTCTGACGCAGC ENSP00000263816.3:n.12295+111_12295+112in...
NM_004525.2:c.12295+111_12295+112insTCTGACGCAGC NP_004516.2:n.12295+111_12295+112insTCTGA...
XM_011511183.1:c.12166+111_12166+112insTCTGACGCAGC XP_011509485.1:n.12166+111_12166+112insTC...
XM_011511184.1:c.10006+111_10006+112insTCTGACGCAGC XP_011509486.1:n.10006+111_10006+112insTC...
NM_004525.3:c.12295+111_12295+112insTCTGACGCAGC MANE Select NP_004516.2:n.12295+111_12295+112insTCTGA...
XM_011511183.3:c.12166+111_12166+112insTCTGACGCAGC XP_011509485.1:n.12166+111_12166+112insTC...
XM_011511184.2:c.10006+111_10006+112insTCTGACGCAGC XP_011509486.1:n.10006+111_10006+112insTC...