Canonical Allele Identifier: CA1955294
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 711349
ClinVar RCV Id: RCV000883093 RCV002487933 RCV002536839
dbSNP Id: rs142080405
ExAC: 2:170115592 C / T
gnomAD v2: 2-170115592-C-T
gnomAD v3: 2-169259082-C-T
gnomAD v4: 2-169259082-C-T
MyVariant Identifiers: chr2:g.170115592C>T (hg19) chr2:g.169259082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259082C>T , CM000664.2:g.169259082C>T GRCh38
NC_000002.11:g.170115592C>T , CM000664.1:g.170115592C>T GRCh37
NC_000002.10:g.169823838C>T NCBI36
NG_012634.1:g.108531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2456G>A MANE Select ENSP00000496870.1:p.Arg819His
ENST00000263816.7:c.2456G>A ENSP00000263816.3:p.Arg819His
ENST00000443831.1:c.2045G>A ENSP00000409813.1:p.Arg682His
NM_004525.2:c.2456G>A NP_004516.2:p.Arg819His
XM_011511183.1:c.2456G>A XP_011509485.1:p.Arg819His
XM_011511184.1:c.167G>A XP_011509486.1:p.Arg56His
XM_011511185.1:c.2456G>A XP_011509487.1:p.Arg819His
NM_004525.3:c.2456G>A MANE Select NP_004516.2:p.Arg819His
XM_011511183.3:c.2456G>A XP_011509485.1:p.Arg819His
XM_011511184.2:c.167G>A XP_011509486.1:p.Arg56His
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