Canonical Allele Identifier: CA1952431

Gene: LRP2

Linked Data

• dbSNP Id: rs143569609
• ExAC: 2:169985580 A / T
• gnomAD v2: 2-169985580-A-T
• gnomAD v3: 2-169129070-A-T
• gnomAD v4: 2-169129070-A-T
• MyVariant Identifiers: chr2:g.169985580A>T (hg19) ; chr2:g.169129070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169129070A>T , CM000664.2:g.169129070A>T	GRCh38
NC_000002.11:g.169985580A>T , CM000664.1:g.169985580A>T	GRCh37
NC_000002.10:g.169693826A>T	NCBI36
NG_012634.1:g.238543T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13743T>A MANE Select	ENSP00000496870.1:p.Asn4581Lys
ENST00000649153.1:c.4552T>A
ENST00000650252.1:c.2734T>A	ENSP00000496887.1:n.2734T>A
ENST00000263816.7:c.13743T>A	ENSP00000263816.3:p.Asn4581Lys
NM_004525.2:c.13743T>A	NP_004516.2:p.Asn4581Lys
XM_011511183.1:c.13614T>A	XP_011509485.1:p.Asn4538Lys
XM_011511184.1:c.11454T>A	XP_011509486.1:p.Asn3818Lys
NM_004525.3:c.13743T>A MANE Select	NP_004516.2:p.Asn4581Lys
XM_011511183.3:c.13614T>A	XP_011509485.1:p.Asn4538Lys
XM_011511184.2:c.11454T>A	XP_011509486.1:p.Asn3818Lys