Canonical Allele Identifier: CA760480314
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs1416256560
MyVariant Identifiers: chr2:g.170115733_170115735del (hg19) chr2:g.169259223_169259225del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259223_169259225del , CM000664.2:g.169259223_169259225del GRCh38
NC_000002.11:g.170115733_170115735del , CM000664.1:g.170115733_170115735del GRCh37
NC_000002.10:g.169823979_169823981del NCBI36
NG_012634.1:g.108388_108390del

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.2321-8_2321-6del MANE Select ENSP00000496870.1:n.2321-8_2321-6del
ENST00000263816.7:c.2321-8_2321-6del ENSP00000263816.3:n.2321-8_2321-6del
ENST00000443831.1:c.1910-8_1910-6del ENSP00000409813.1:n.1910-8_1910-6del
NM_004525.2:c.2321-8_2321-6del NP_004516.2:n.2321-8_2321-6del
XM_011511183.1:c.2321-8_2321-6del XP_011509485.1:n.2321-8_2321-6del
XM_011511184.1:c.32-8_32-6del XP_011509486.1:n.32-8_32-6del
XM_011511185.1:c.2321-8_2321-6del XP_011509487.1:n.2321-8_2321-6del
NM_004525.3:c.2321-8_2321-6del MANE Select NP_004516.2:n.2321-8_2321-6del
XM_011511183.3:c.2321-8_2321-6del XP_011509485.1:n.2321-8_2321-6del
XM_011511184.2:c.32-8_32-6del XP_011509486.1:n.32-8_32-6del
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