Canonical Allele Identifier: CA349149495

Gene: LRP2

Linked Data

• gnomAD v4: 2-169129073-C-A
• MyVariant Identifiers: chr2:g.169985583C>A (hg19) ; chr2:g.169129073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169129073C>A , CM000664.2:g.169129073C>A	GRCh38
NC_000002.11:g.169985583C>A , CM000664.1:g.169985583C>A	GRCh37
NC_000002.10:g.169693829C>A	NCBI36
NG_012634.1:g.238540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13740G>T MANE Select	ENSP00000496870.1:p.Trp4580Cys
ENST00000649153.1:c.4549G>T
ENST00000650252.1:c.2731G>T	ENSP00000496887.1:n.2731G>T
ENST00000263816.7:c.13740G>T	ENSP00000263816.3:p.Trp4580Cys
NM_004525.2:c.13740G>T	NP_004516.2:p.Trp4580Cys
XM_011511183.1:c.13611G>T	XP_011509485.1:p.Trp4537Cys
XM_011511184.1:c.11451G>T	XP_011509486.1:p.Trp3817Cys
NM_004525.3:c.13740G>T MANE Select	NP_004516.2:p.Trp4580Cys
XM_011511183.3:c.13611G>T	XP_011509485.1:p.Trp4537Cys
XM_011511184.2:c.11451G>T	XP_011509486.1:p.Trp3817Cys