Canonical Allele Identifier: CA349137238

Gene: LRP2

Linked Data

• dbSNP Id: rs1686262020
• MyVariant Identifiers: chr2:g.170011027C>A (hg19) ; chr2:g.169154517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154517C>A , CM000664.2:g.169154517C>A	GRCh38
NC_000002.11:g.170011027C>A , CM000664.1:g.170011027C>A	GRCh37
NC_000002.10:g.169719273C>A	NCBI36
NG_012634.1:g.213096G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12238G>T MANE Select	ENSP00000496870.1:p.Asp4080Tyr
ENST00000649153.1:c.3138G>T
ENST00000650252.1:c.1266G>T	ENSP00000496887.1:p.Lys422Asn
ENST00000263816.7:c.12238G>T	ENSP00000263816.3:p.Asp4080Tyr
NM_004525.2:c.12238G>T	NP_004516.2:p.Asp4080Tyr
XM_011511183.1:c.12109G>T	XP_011509485.1:p.Asp4037Tyr
XM_011511184.1:c.9949G>T	XP_011509486.1:p.Asp3317Tyr
NM_004525.3:c.12238G>T MANE Select	NP_004516.2:p.Asp4080Tyr
XM_011511183.3:c.12109G>T	XP_011509485.1:p.Asp4037Tyr
XM_011511184.2:c.9949G>T	XP_011509486.1:p.Asp3317Tyr