Canonical Allele Identifier: CA1952852

Gene: LRP2

Linked Data

• ClinVar Variation Id: 1898010
• ClinVar RCV Id: RCV002579732
• dbSNP Id: rs777671589
• ExAC: 2:170010979 T / C
• gnomAD v2: 2-170010979-T-C
• gnomAD v4: 2-169154469-T-C
• MyVariant Identifiers: chr2:g.170010979T>C (hg19) ; chr2:g.169154469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154469T>C , CM000664.2:g.169154469T>C	GRCh38
NC_000002.11:g.170010979T>C , CM000664.1:g.170010979T>C	GRCh37
NC_000002.10:g.169719225T>C	NCBI36
NG_012634.1:g.213144A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12286A>G MANE Select	ENSP00000496870.1:p.Ile4096Val
ENST00000649153.1:c.3186A>G
ENST00000650252.1:c.1314A>G	ENSP00000496887.1:p.Thr438=
ENST00000263816.7:c.12286A>G	ENSP00000263816.3:p.Ile4096Val
NM_004525.2:c.12286A>G	NP_004516.2:p.Ile4096Val
XM_011511183.1:c.12157A>G	XP_011509485.1:p.Ile4053Val
XM_011511184.1:c.9997A>G	XP_011509486.1:p.Ile3333Val
NM_004525.3:c.12286A>G MANE Select	NP_004516.2:p.Ile4096Val
XM_011511183.3:c.12157A>G	XP_011509485.1:p.Ile4053Val
XM_011511184.2:c.9997A>G	XP_011509486.1:p.Ile3333Val