Canonical Allele Identifier: CA349158065

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170115560A>C (hg19) ; chr2:g.169259050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259050A>C , CM000664.2:g.169259050A>C	GRCh38
NC_000002.11:g.170115560A>C , CM000664.1:g.170115560A>C	GRCh37
NC_000002.10:g.169823806A>C	NCBI36
NG_012634.1:g.108563T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2488T>G MANE Select	ENSP00000496870.1:p.Ser830Ala
ENST00000263816.7:c.2488T>G	ENSP00000263816.3:p.Ser830Ala
ENST00000443831.1:c.2077T>G	ENSP00000409813.1:p.Ser693Ala
NM_004525.2:c.2488T>G	NP_004516.2:p.Ser830Ala
XM_011511183.1:c.2488T>G	XP_011509485.1:p.Ser830Ala
XM_011511184.1:c.199T>G	XP_011509486.1:p.Ser67Ala
XM_011511185.1:c.2488T>G	XP_011509487.1:p.Ser830Ala
NM_004525.3:c.2488T>G MANE Select	NP_004516.2:p.Ser830Ala
XM_011511183.3:c.2488T>G	XP_011509485.1:p.Ser830Ala
XM_011511184.2:c.199T>G	XP_011509486.1:p.Ser67Ala