Canonical Allele Identifier: CA349137312

Gene: LRP2

Linked Data

• ClinVar Variation Id: 2005388
• ClinVar RCV Id: RCV002820993
• dbSNP Id: rs1686262580
• MyVariant Identifiers: chr2:g.170011038T>C (hg19) ; chr2:g.169154528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154528T>C , CM000664.2:g.169154528T>C	GRCh38
NC_000002.11:g.170011038T>C , CM000664.1:g.170011038T>C	GRCh37
NC_000002.10:g.169719284T>C	NCBI36
NG_012634.1:g.213085A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12227A>G MANE Select	ENSP00000496870.1:p.Glu4076Gly
ENST00000649153.1:c.3127A>G
ENST00000650252.1:c.1255A>G	ENSP00000496887.1:p.Ser419Gly
ENST00000263816.7:c.12227A>G	ENSP00000263816.3:p.Glu4076Gly
NM_004525.2:c.12227A>G	NP_004516.2:p.Glu4076Gly
XM_011511183.1:c.12098A>G	XP_011509485.1:p.Glu4033Gly
XM_011511184.1:c.9938A>G	XP_011509486.1:p.Glu3313Gly
NM_004525.3:c.12227A>G MANE Select	NP_004516.2:p.Glu4076Gly
XM_011511183.3:c.12098A>G	XP_011509485.1:p.Glu4033Gly
XM_011511184.2:c.9938A>G	XP_011509486.1:p.Glu3313Gly