Canonical Allele Identifier: CA1955181
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1165724
ClinVar RCV Id: RCV001513078 RCV002501775
dbSNP Id: rs182125868
ExAC: 2:170103870 C / T
gnomAD v2: 2-170103870-C-T
gnomAD v3: 2-169247360-C-T
gnomAD v4: 2-169247360-C-T
MyVariant Identifiers: chr2:g.170103870C>T (hg19) chr2:g.169247360C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169247360C>T , CM000664.2:g.169247360C>T GRCh38
NC_000002.11:g.170103870C>T , CM000664.1:g.170103870C>T GRCh37
NC_000002.10:g.169812116C>T NCBI36
NG_012634.1:g.120253G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.2908+18G>A MANE Select ENSP00000496870.1:n.2908+18G>A
ENST00000263816.7:c.2908+18G>A ENSP00000263816.3:n.2908+18G>A
ENST00000443831.1:c.2497+18G>A ENSP00000409813.1:n.2497+18G>A
NM_004525.2:c.2908+18G>A NP_004516.2:n.2908+18G>A
XM_011511183.1:c.2908+18G>A XP_011509485.1:n.2908+18G>A
XM_011511184.1:c.619+18G>A XP_011509486.1:n.619+18G>A
XM_011511185.1:c.2908+18G>A XP_011509487.1:n.2908+18G>A
NM_004525.3:c.2908+18G>A MANE Select NP_004516.2:n.2908+18G>A
XM_011511183.3:c.2908+18G>A XP_011509485.1:n.2908+18G>A
XM_011511184.2:c.619+18G>A XP_011509486.1:n.619+18G>A
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