Canonical Allele Identifier: CA349137185

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154509-T-A
• MyVariant Identifiers: chr2:g.170011019T>A (hg19) ; chr2:g.169154509T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154509T>A , CM000664.2:g.169154509T>A	GRCh38
NC_000002.11:g.170011019T>A , CM000664.1:g.170011019T>A	GRCh37
NC_000002.10:g.169719265T>A	NCBI36
NG_012634.1:g.213104A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12246A>T MANE Select	ENSP00000496870.1:p.Glu4082Asp
ENST00000649153.1:c.3146A>T
ENST00000650252.1:c.1274A>T	ENSP00000496887.1:p.Asn425Ile
ENST00000263816.7:c.12246A>T	ENSP00000263816.3:p.Glu4082Asp
NM_004525.2:c.12246A>T	NP_004516.2:p.Glu4082Asp
XM_011511183.1:c.12117A>T	XP_011509485.1:p.Glu4039Asp
XM_011511184.1:c.9957A>T	XP_011509486.1:p.Glu3319Asp
NM_004525.3:c.12246A>T MANE Select	NP_004516.2:p.Glu4082Asp
XM_011511183.3:c.12117A>T	XP_011509485.1:p.Glu4039Asp
XM_011511184.2:c.9957A>T	XP_011509486.1:p.Glu3319Asp