Canonical Allele Identifier: CA1306353775

Gene: LRP2

Linked Data

• dbSNP Id: rs1690432914

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259157_169259158insCTGTATG , CM000664.2:g.169259157_169259158insCTGTATG	GRCh38
NC_000002.11:g.170115667_170115668insCTGTATG , CM000664.1:g.170115667_170115668insCTGTATG	GRCh37
NC_000002.10:g.169823913_169823914insCTGTATG	NCBI36
NG_012634.1:g.108455_108456insCATACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2380_2381insCATACAG MANE Select	ENSP00000496870.1:p.Ile794ThrfsTer24
ENST00000263816.7:c.2380_2381insCATACAG	ENSP00000263816.3:p.Ile794ThrfsTer24
ENST00000443831.1:c.1969_1970insCATACAG	ENSP00000409813.1:p.Ile657ThrfsTer24
NM_004525.2:c.2380_2381insCATACAG	NP_004516.2:p.Ile794ThrfsTer24
XM_011511183.1:c.2380_2381insCATACAG	XP_011509485.1:p.Ile794ThrfsTer24
XM_011511184.1:c.91_92insCATACAG	XP_011509486.1:p.Ile31ThrfsTer24
XM_011511185.1:c.2380_2381insCATACAG	XP_011509487.1:p.Ile794ThrfsTer24
NM_004525.3:c.2380_2381insCATACAG MANE Select	NP_004516.2:p.Ile794ThrfsTer24
XM_011511183.3:c.2380_2381insCATACAG	XP_011509485.1:p.Ile794ThrfsTer24
XM_011511184.2:c.91_92insCATACAG	XP_011509486.1:p.Ile31ThrfsTer24