Canonical Allele Identifier: CA349158536

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170115668T>C (hg19) ; chr2:g.169259158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259158T>C , CM000664.2:g.169259158T>C	GRCh38
NC_000002.11:g.170115668T>C , CM000664.1:g.170115668T>C	GRCh37
NC_000002.10:g.169823914T>C	NCBI36
NG_012634.1:g.108455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2380A>G MANE Select	ENSP00000496870.1:p.Ile794Val
ENST00000263816.7:c.2380A>G	ENSP00000263816.3:p.Ile794Val
ENST00000443831.1:c.1969A>G	ENSP00000409813.1:p.Ile657Val
NM_004525.2:c.2380A>G	NP_004516.2:p.Ile794Val
XM_011511183.1:c.2380A>G	XP_011509485.1:p.Ile794Val
XM_011511184.1:c.91A>G	XP_011509486.1:p.Ile31Val
XM_011511185.1:c.2380A>G	XP_011509487.1:p.Ile794Val
NM_004525.3:c.2380A>G MANE Select	NP_004516.2:p.Ile794Val
XM_011511183.3:c.2380A>G	XP_011509485.1:p.Ile794Val
XM_011511184.2:c.91A>G	XP_011509486.1:p.Ile31Val