Canonical Allele Identifier: CA1955298
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 332190
ClinVar RCV Id: RCV000346121 RCV001861142
dbSNP Id: rs147791791
ExAC: 2:170115598 G / A
gnomAD v2: 2-170115598-G-A
gnomAD v3: 2-169259088-G-A
gnomAD v4: 2-169259088-G-A
MyVariant Identifiers: chr2:g.170115598G>A (hg19) chr2:g.169259088G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259088G>A , CM000664.2:g.169259088G>A GRCh38
NC_000002.11:g.170115598G>A , CM000664.1:g.170115598G>A GRCh37
NC_000002.10:g.169823844G>A NCBI36
NG_012634.1:g.108525C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2450C>T MANE Select ENSP00000496870.1:p.Thr817Met
ENST00000263816.7:c.2450C>T ENSP00000263816.3:p.Thr817Met
ENST00000443831.1:c.2039C>T ENSP00000409813.1:p.Thr680Met
NM_004525.2:c.2450C>T NP_004516.2:p.Thr817Met
XM_011511183.1:c.2450C>T XP_011509485.1:p.Thr817Met
XM_011511184.1:c.161C>T XP_011509486.1:p.Thr54Met
XM_011511185.1:c.2450C>T XP_011509487.1:p.Thr817Met
NM_004525.3:c.2450C>T MANE Select NP_004516.2:p.Thr817Met
XM_011511183.3:c.2450C>T XP_011509485.1:p.Thr817Met
XM_011511184.2:c.161C>T XP_011509486.1:p.Thr54Met
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