Canonical Allele Identifier: CA349137455

Gene: LRP2

Linked Data

• COSMIC: COSM5008227
• MyVariant Identifiers: chr2:g.170011074A>T (hg19) ; chr2:g.169154564A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154564A>T , CM000664.2:g.169154564A>T	GRCh38
NC_000002.11:g.170011074A>T , CM000664.1:g.170011074A>T	GRCh37
NC_000002.10:g.169719320A>T	NCBI36
NG_012634.1:g.213049T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12191T>A MANE Select	ENSP00000496870.1:p.Ile4064Asn
ENST00000649153.1:c.3091T>A
ENST00000650252.1:c.1219T>A	ENSP00000496887.1:p.Phe407Ile
ENST00000263816.7:c.12191T>A	ENSP00000263816.3:p.Ile4064Asn
NM_004525.2:c.12191T>A	NP_004516.2:p.Ile4064Asn
XM_011511183.1:c.12062T>A	XP_011509485.1:p.Ile4021Asn
XM_011511184.1:c.9902T>A	XP_011509486.1:p.Ile3301Asn
NM_004525.3:c.12191T>A MANE Select	NP_004516.2:p.Ile4064Asn
XM_011511183.3:c.12062T>A	XP_011509485.1:p.Ile4021Asn
XM_011511184.2:c.9902T>A	XP_011509486.1:p.Ile3301Asn