Canonical Allele Identifier: CA349137189

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011019T>G (hg19) ; chr2:g.169154509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154509T>G , CM000664.2:g.169154509T>G	GRCh38
NC_000002.11:g.170011019T>G , CM000664.1:g.170011019T>G	GRCh37
NC_000002.10:g.169719265T>G	NCBI36
NG_012634.1:g.213104A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12246A>C MANE Select	ENSP00000496870.1:p.Glu4082Asp
ENST00000649153.1:c.3146A>C
ENST00000650252.1:c.1274A>C	ENSP00000496887.1:p.Asn425Thr
ENST00000263816.7:c.12246A>C	ENSP00000263816.3:p.Glu4082Asp
NM_004525.2:c.12246A>C	NP_004516.2:p.Glu4082Asp
XM_011511183.1:c.12117A>C	XP_011509485.1:p.Glu4039Asp
XM_011511184.1:c.9957A>C	XP_011509486.1:p.Glu3319Asp
NM_004525.3:c.12246A>C MANE Select	NP_004516.2:p.Glu4082Asp
XM_011511183.3:c.12117A>C	XP_011509485.1:p.Glu4039Asp
XM_011511184.2:c.9957A>C	XP_011509486.1:p.Glu3319Asp