Canonical Allele Identifier: CA349137058

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154487-C-A
• MyVariant Identifiers: chr2:g.170010997C>A (hg19) ; chr2:g.169154487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154487C>A , CM000664.2:g.169154487C>A	GRCh38
NC_000002.11:g.170010997C>A , CM000664.1:g.170010997C>A	GRCh37
NC_000002.10:g.169719243C>A	NCBI36
NG_012634.1:g.213126G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12268G>T MANE Select	ENSP00000496870.1:p.Asp4090Tyr
ENST00000649153.1:c.3168G>T
ENST00000650252.1:c.1296G>T	ENSP00000496887.1:p.Met432Ile
ENST00000263816.7:c.12268G>T	ENSP00000263816.3:p.Asp4090Tyr
NM_004525.2:c.12268G>T	NP_004516.2:p.Asp4090Tyr
XM_011511183.1:c.12139G>T	XP_011509485.1:p.Asp4047Tyr
XM_011511184.1:c.9979G>T	XP_011509486.1:p.Asp3327Tyr
NM_004525.3:c.12268G>T MANE Select	NP_004516.2:p.Asp4090Tyr
XM_011511183.3:c.12139G>T	XP_011509485.1:p.Asp4047Tyr
XM_011511184.2:c.9979G>T	XP_011509486.1:p.Asp3327Tyr