Canonical Allele Identifier: CA429922553

Gene: LRP2

Linked Data

• dbSNP Id: rs1192650179
• gnomAD v2: 2-170010995-A-G
• gnomAD v4: 2-169154485-A-G
• MyVariant Identifiers: chr2:g.170010995A>G (hg19) ; chr2:g.169154485A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12270T>C MANE Select	ENSP00000496870.1:p.Asp4090=
ENST00000649153.1:c.3170T>C
ENST00000650252.1:c.1298T>C	ENSP00000496887.1:p.Ile433Thr
ENST00000263816.7:c.12270T>C	ENSP00000263816.3:p.Asp4090=
NM_004525.2:c.12270T>C	NP_004516.2:p.Asp4090=
XM_011511183.1:c.12141T>C	XP_011509485.1:p.Asp4047=
XM_011511184.1:c.9981T>C	XP_011509486.1:p.Asp3327=
NM_004525.3:c.12270T>C MANE Select	NP_004516.2:p.Asp4090=
XM_011511183.3:c.12141T>C	XP_011509485.1:p.Asp4047=
XM_011511184.2:c.9981T>C	XP_011509486.1:p.Asp3327=