Canonical Allele Identifier: CA349137385

Gene: LRP2

Linked Data

• COSMIC: COSM4844543
• MyVariant Identifiers: chr2:g.170011056G>C (hg19) ; chr2:g.169154546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154546G>C , CM000664.2:g.169154546G>C	GRCh38
NC_000002.11:g.170011056G>C , CM000664.1:g.170011056G>C	GRCh37
NC_000002.10:g.169719302G>C	NCBI36
NG_012634.1:g.213067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12209C>G MANE Select	ENSP00000496870.1:p.Ser4070Ter
ENST00000649153.1:c.3109C>G
ENST00000650252.1:c.1237C>G	ENSP00000496887.1:p.His413Asp
ENST00000263816.7:c.12209C>G	ENSP00000263816.3:p.Ser4070Ter
NM_004525.2:c.12209C>G	NP_004516.2:p.Ser4070Ter
XM_011511183.1:c.12080C>G	XP_011509485.1:p.Ser4027Ter
XM_011511184.1:c.9920C>G	XP_011509486.1:p.Ser3307Ter
NM_004525.3:c.12209C>G MANE Select	NP_004516.2:p.Ser4070Ter
XM_011511183.3:c.12080C>G	XP_011509485.1:p.Ser4027Ter
XM_011511184.2:c.9920C>G	XP_011509486.1:p.Ser3307Ter