Canonical Allele Identifier: CA59898091

Gene: LRP2

Linked Data

• dbSNP Id: rs538396567
• gnomAD v3: 2-169154471-T-A
• gnomAD v4: 2-169154471-T-A
• MyVariant Identifiers: chr2:g.170010981T>A (hg19) ; chr2:g.169154471T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154471T>A , CM000664.2:g.169154471T>A	GRCh38
NC_000002.11:g.170010981T>A , CM000664.1:g.170010981T>A	GRCh37
NC_000002.10:g.169719227T>A	NCBI36
NG_012634.1:g.213142A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12284A>T MANE Select	ENSP00000496870.1:p.Asp4095Val
ENST00000649153.1:c.3184A>T
ENST00000650252.1:c.1312A>T	ENSP00000496887.1:p.Thr438Ser
ENST00000263816.7:c.12284A>T	ENSP00000263816.3:p.Asp4095Val
NM_004525.2:c.12284A>T	NP_004516.2:p.Asp4095Val
XM_011511183.1:c.12155A>T	XP_011509485.1:p.Asp4052Val
XM_011511184.1:c.9995A>T	XP_011509486.1:p.Asp3332Val
NM_004525.3:c.12284A>T MANE Select	NP_004516.2:p.Asp4095Val
XM_011511183.3:c.12155A>T	XP_011509485.1:p.Asp4052Val
XM_011511184.2:c.9995A>T	XP_011509486.1:p.Asp3332Val