Canonical Allele Identifier: CA1306353778
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs1690433224

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259159_169259160insTTTTA , CM000664.2:g.169259159_169259160insTTTTA GRCh38
NC_000002.11:g.170115669_170115670insTTTTA , CM000664.1:g.170115669_170115670insTTTTA GRCh37
NC_000002.10:g.169823915_169823916insTTTTA NCBI36
NG_012634.1:g.108453_108454insTAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2378_2379insTAAAA MANE Select ENSP00000496870.1:p.Trp793CysfsTer21
ENST00000263816.7:c.2378_2379insTAAAA ENSP00000263816.3:p.Trp793CysfsTer21
ENST00000443831.1:c.1967_1968insTAAAA ENSP00000409813.1:p.Trp656CysfsTer21
NM_004525.2:c.2378_2379insTAAAA NP_004516.2:p.Trp793CysfsTer21
XM_011511183.1:c.2378_2379insTAAAA XP_011509485.1:p.Trp793CysfsTer21
XM_011511184.1:c.89_90insTAAAA XP_011509486.1:p.Trp30CysfsTer21
XM_011511185.1:c.2378_2379insTAAAA XP_011509487.1:p.Trp793CysfsTer21
NM_004525.3:c.2378_2379insTAAAA MANE Select NP_004516.2:p.Trp793CysfsTer21
XM_011511183.3:c.2378_2379insTAAAA XP_011509485.1:p.Trp793CysfsTer21
XM_011511184.2:c.89_90insTAAAA XP_011509486.1:p.Trp30CysfsTer21