Canonical Allele Identifier: CA2739271588
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2840759
ClinVar RCV Id: RCV003718679

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169247370T>G , CM000664.2:g.169247370T>G GRCh38
NC_000002.11:g.170103880T>G , CM000664.1:g.170103880T>G GRCh37
NC_000002.10:g.169812126T>G NCBI36
NG_012634.1:g.120243A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.2908+8A>C MANE Select ENSP00000496870.1:n.2908+8A>C
ENST00000263816.7:c.2908+8A>C ENSP00000263816.3:n.2908+8A>C
ENST00000443831.1:c.2497+8A>C ENSP00000409813.1:n.2497+8A>C
NM_004525.2:c.2908+8A>C NP_004516.2:n.2908+8A>C
XM_011511183.1:c.2908+8A>C XP_011509485.1:n.2908+8A>C
XM_011511184.1:c.619+8A>C XP_011509486.1:n.619+8A>C
XM_011511185.1:c.2908+8A>C XP_011509487.1:n.2908+8A>C
NM_004525.3:c.2908+8A>C MANE Select NP_004516.2:n.2908+8A>C
XM_011511183.3:c.2908+8A>C XP_011509485.1:n.2908+8A>C
XM_011511184.2:c.619+8A>C XP_011509486.1:n.619+8A>C