Canonical Allele Identifier: CA349137358

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011049C>A (hg19) ; chr2:g.169154539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154539C>A , CM000664.2:g.169154539C>A	GRCh38
NC_000002.11:g.170011049C>A , CM000664.1:g.170011049C>A	GRCh37
NC_000002.10:g.169719295C>A	NCBI36
NG_012634.1:g.213074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12216G>T MANE Select	ENSP00000496870.1:p.Glu4072Asp
ENST00000649153.1:c.3116G>T
ENST00000650252.1:c.1244G>T	ENSP00000496887.1:p.Arg415Ile
ENST00000263816.7:c.12216G>T	ENSP00000263816.3:p.Glu4072Asp
NM_004525.2:c.12216G>T	NP_004516.2:p.Glu4072Asp
XM_011511183.1:c.12087G>T	XP_011509485.1:p.Glu4029Asp
XM_011511184.1:c.9927G>T	XP_011509486.1:p.Glu3309Asp
NM_004525.3:c.12216G>T MANE Select	NP_004516.2:p.Glu4072Asp
XM_011511183.3:c.12087G>T	XP_011509485.1:p.Glu4029Asp
XM_011511184.2:c.9927G>T	XP_011509486.1:p.Glu3309Asp