Canonical Allele Identifier: CA349158572

Gene: LRP2

Linked Data

• dbSNP Id: rs1690433755
• MyVariant Identifiers: chr2:g.170115677A>C (hg19) ; chr2:g.169259167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259167A>C , CM000664.2:g.169259167A>C	GRCh38
NC_000002.11:g.170115677A>C , CM000664.1:g.170115677A>C	GRCh37
NC_000002.10:g.169823923A>C	NCBI36
NG_012634.1:g.108446T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2371T>G MANE Select	ENSP00000496870.1:p.Phe791Val
ENST00000263816.7:c.2371T>G	ENSP00000263816.3:p.Phe791Val
ENST00000443831.1:c.1960T>G	ENSP00000409813.1:p.Phe654Val
NM_004525.2:c.2371T>G	NP_004516.2:p.Phe791Val
XM_011511183.1:c.2371T>G	XP_011509485.1:p.Phe791Val
XM_011511184.1:c.82T>G	XP_011509486.1:p.Phe28Val
XM_011511185.1:c.2371T>G	XP_011509487.1:p.Phe791Val
NM_004525.3:c.2371T>G MANE Select	NP_004516.2:p.Phe791Val
XM_011511183.3:c.2371T>G	XP_011509485.1:p.Phe791Val
XM_011511184.2:c.82T>G	XP_011509486.1:p.Phe28Val