Canonical Allele Identifier: CA1955343

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169270960A>G , CM000664.2:g.169270960A>G	GRCh38
NC_000002.11:g.170127470A>G , CM000664.1:g.170127470A>G	GRCh37
NC_000002.10:g.169835716A>G	NCBI36
NG_012634.1:g.96653T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004525.3:c.2264T>C MANE Select	NP_004516.2:p.Ile755Thr
ENST00000649046.1:c.2264T>C MANE Select	ENSP00000496870.1:p.Ile755Thr
NM_004525.2:c.2264T>C	NP_004516.2:p.Ile755Thr
ENST00000263816.7:c.2264T>C	ENSP00000263816.3:p.Ile755Thr
ENST00000443831.1:c.1909+1967T>C	ENSP00000409813.1:n.1909+1967T>C
XM_011511183.1:c.2264T>C	XP_011509485.1:p.Ile755Thr
XM_011511183.3:c.2264T>C	XP_011509485.1:p.Ile755Thr
XM_011511184.1:c.31+710T>C	XP_011509486.1:n.31+710T>C
XM_011511184.2:c.31+710T>C	XP_011509486.1:n.31+710T>C
XM_011511185.1:c.2264T>C	XP_011509487.1:p.Ile755Thr