Canonical Allele Identifier: CA349152164
Gene: LRP2 HGNC NCBI

Linked Data

gnomAD v4: 2-169282872-C-T
MyVariant Identifiers: chr2:g.170139382C>T (hg19) chr2:g.169282872C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169282872C>T , CM000664.2:g.169282872C>T GRCh38
NC_000002.11:g.170139382C>T , CM000664.1:g.170139382C>T GRCh37
NC_000002.10:g.169847628C>T NCBI36
NG_012634.1:g.84741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.1171+1G>A MANE Select ENSP00000496870.1:n.1171+1G>A
ENST00000263816.7:c.1171+1G>A ENSP00000263816.3:n.1171+1G>A
ENST00000443831.1:c.1171+1G>A ENSP00000409813.1:n.1171+1G>A
NM_004525.2:c.1171+1G>A NP_004516.2:n.1171+1G>A
XM_011511183.1:c.1171+1G>A XP_011509485.1:n.1171+1G>A
XM_011511185.1:c.1171+1G>A XP_011509487.1:n.1171+1G>A
NM_004525.3:c.1171+1G>A MANE Select NP_004516.2:n.1171+1G>A
XM_011511183.3:c.1171+1G>A XP_011509485.1:n.1171+1G>A
Search 100 bp 5'
Search 100 bp 3'