Canonical Allele Identifier: CA349149431

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.169985575A>C (hg19) ; chr2:g.169129065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169129065A>C , CM000664.2:g.169129065A>C	GRCh38
NC_000002.11:g.169985575A>C , CM000664.1:g.169985575A>C	GRCh37
NC_000002.10:g.169693821A>C	NCBI36
NG_012634.1:g.238548T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13748T>G MANE Select	ENSP00000496870.1:p.Phe4583Cys
ENST00000649153.1:c.4557T>G
ENST00000650252.1:c.2739T>G	ENSP00000496887.1:n.2739T>G
ENST00000263816.7:c.13748T>G	ENSP00000263816.3:p.Phe4583Cys
NM_004525.2:c.13748T>G	NP_004516.2:p.Phe4583Cys
XM_011511183.1:c.13619T>G	XP_011509485.1:p.Phe4540Cys
XM_011511184.1:c.11459T>G	XP_011509486.1:p.Phe3820Cys
NM_004525.3:c.13748T>G MANE Select	NP_004516.2:p.Phe4583Cys
XM_011511183.3:c.13619T>G	XP_011509485.1:p.Phe4540Cys
XM_011511184.2:c.11459T>G	XP_011509486.1:p.Phe3820Cys