Canonical Allele Identifier: CA349150693

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169132599G>C , CM000664.2:g.169132599G>C	GRCh38
NC_000002.11:g.169989109G>C , CM000664.1:g.169989109G>C	GRCh37
NC_000002.10:g.169697355G>C	NCBI36
NG_012634.1:g.235014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13703C>G MANE Select	ENSP00000496870.1:p.Thr4568Ser
ENST00000649153.1:c.4512C>G
ENST00000650252.1:c.2694C>G	ENSP00000496887.1:n.2694C>G
ENST00000263816.7:c.13703C>G	ENSP00000263816.3:p.Thr4568Ser
NM_004525.2:c.13703C>G	NP_004516.2:p.Thr4568Ser
XM_011511183.1:c.13574C>G	XP_011509485.1:p.Thr4525Ser
XM_011511184.1:c.11414C>G	XP_011509486.1:p.Thr3805Ser
NM_004525.3:c.13703C>G MANE Select	NP_004516.2:p.Thr4568Ser
XM_011511183.3:c.13574C>G	XP_011509485.1:p.Thr4525Ser
XM_011511184.2:c.11414C>G	XP_011509486.1:p.Thr3805Ser