Canonical Allele Identifier: CA349137096

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011003C>G (hg19) ; chr2:g.169154493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154493C>G , CM000664.2:g.169154493C>G	GRCh38
NC_000002.11:g.170011003C>G , CM000664.1:g.170011003C>G	GRCh37
NC_000002.10:g.169719249C>G	NCBI36
NG_012634.1:g.213120G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12262G>C MANE Select	ENSP00000496870.1:p.Asp4088His
ENST00000649153.1:c.3162G>C
ENST00000650252.1:c.1290G>C	ENSP00000496887.1:p.Leu430Phe
ENST00000263816.7:c.12262G>C	ENSP00000263816.3:p.Asp4088His
NM_004525.2:c.12262G>C	NP_004516.2:p.Asp4088His
XM_011511183.1:c.12133G>C	XP_011509485.1:p.Asp4045His
XM_011511184.1:c.9973G>C	XP_011509486.1:p.Asp3325His
NM_004525.3:c.12262G>C MANE Select	NP_004516.2:p.Asp4088His
XM_011511183.3:c.12133G>C	XP_011509485.1:p.Asp4045His
XM_011511184.2:c.9973G>C	XP_011509486.1:p.Asp3325His