Canonical Allele Identifier: CA349137048

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154485-A-C
• MyVariant Identifiers: chr2:g.170010995A>C (hg19) ; chr2:g.169154485A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154485A>C , CM000664.2:g.169154485A>C	GRCh38
NC_000002.11:g.170010995A>C , CM000664.1:g.170010995A>C	GRCh37
NC_000002.10:g.169719241A>C	NCBI36
NG_012634.1:g.213128T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12270T>G MANE Select	ENSP00000496870.1:p.Asp4090Glu
ENST00000649153.1:c.3170T>G
ENST00000650252.1:c.1298T>G	ENSP00000496887.1:p.Ile433Ser
ENST00000263816.7:c.12270T>G	ENSP00000263816.3:p.Asp4090Glu
NM_004525.2:c.12270T>G	NP_004516.2:p.Asp4090Glu
XM_011511183.1:c.12141T>G	XP_011509485.1:p.Asp4047Glu
XM_011511184.1:c.9981T>G	XP_011509486.1:p.Asp3327Glu
NM_004525.3:c.12270T>G MANE Select	NP_004516.2:p.Asp4090Glu
XM_011511183.3:c.12141T>G	XP_011509485.1:p.Asp4047Glu
XM_011511184.2:c.9981T>G	XP_011509486.1:p.Asp3327Glu