Canonical Allele Identifier: CA349137221

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154514-C-T
• MyVariant Identifiers: chr2:g.170011024C>T (hg19) ; chr2:g.169154514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154514C>T , CM000664.2:g.169154514C>T	GRCh38
NC_000002.11:g.170011024C>T , CM000664.1:g.170011024C>T	GRCh37
NC_000002.10:g.169719270C>T	NCBI36
NG_012634.1:g.213099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12241G>A MANE Select	ENSP00000496870.1:p.Glu4081Lys
ENST00000649153.1:c.3141G>A
ENST00000650252.1:c.1269G>A	ENSP00000496887.1:p.Met423Ile
ENST00000263816.7:c.12241G>A	ENSP00000263816.3:p.Glu4081Lys
NM_004525.2:c.12241G>A	NP_004516.2:p.Glu4081Lys
XM_011511183.1:c.12112G>A	XP_011509485.1:p.Glu4038Lys
XM_011511184.1:c.9952G>A	XP_011509486.1:p.Glu3318Lys
NM_004525.3:c.12241G>A MANE Select	NP_004516.2:p.Glu4081Lys
XM_011511183.3:c.12112G>A	XP_011509485.1:p.Glu4038Lys
XM_011511184.2:c.9952G>A	XP_011509486.1:p.Glu3318Lys