Canonical Allele Identifier: CA349137113

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011006C>G (hg19) ; chr2:g.169154496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154496C>G , CM000664.2:g.169154496C>G	GRCh38
NC_000002.11:g.170011006C>G , CM000664.1:g.170011006C>G	GRCh37
NC_000002.10:g.169719252C>G	NCBI36
NG_012634.1:g.213117G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12259G>C MANE Select	ENSP00000496870.1:p.Val4087Leu
ENST00000649153.1:c.3159G>C
ENST00000650252.1:c.1287G>C	ENSP00000496887.1:p.Leu429=
ENST00000263816.7:c.12259G>C	ENSP00000263816.3:p.Val4087Leu
NM_004525.2:c.12259G>C	NP_004516.2:p.Val4087Leu
XM_011511183.1:c.12130G>C	XP_011509485.1:p.Val4044Leu
XM_011511184.1:c.9970G>C	XP_011509486.1:p.Val3324Leu
NM_004525.3:c.12259G>C MANE Select	NP_004516.2:p.Val4087Leu
XM_011511183.3:c.12130G>C	XP_011509485.1:p.Val4044Leu
XM_011511184.2:c.9970G>C	XP_011509486.1:p.Val3324Leu