Canonical Allele Identifier: CA1955640

Gene: LRP2

Linked Data

• dbSNP Id: rs777682864
• ExAC: 2:170139370 A / G
• gnomAD v2: 2-170139370-A-G
• gnomAD v4: 2-169282860-A-G
• MyVariant Identifiers: chr2:g.170139370A>G (hg19) ; chr2:g.169282860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169282860A>G , CM000664.2:g.169282860A>G	GRCh38
NC_000002.11:g.170139370A>G , CM000664.1:g.170139370A>G	GRCh37
NC_000002.10:g.169847616A>G	NCBI36
NG_012634.1:g.84753T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.1171+13T>C MANE Select	ENSP00000496870.1:n.1171+13T>C
ENST00000263816.7:c.1171+13T>C	ENSP00000263816.3:n.1171+13T>C
ENST00000443831.1:c.1171+13T>C	ENSP00000409813.1:n.1171+13T>C
NM_004525.2:c.1171+13T>C	NP_004516.2:n.1171+13T>C
XM_011511183.1:c.1171+13T>C	XP_011509485.1:n.1171+13T>C
XM_011511185.1:c.1171+13T>C	XP_011509487.1:n.1171+13T>C
NM_004525.3:c.1171+13T>C MANE Select	NP_004516.2:n.1171+13T>C
XM_011511183.3:c.1171+13T>C	XP_011509485.1:n.1171+13T>C