Canonical Allele Identifier: CA349137038

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170010992C>T (hg19) ; chr2:g.169154482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154482C>T , CM000664.2:g.169154482C>T	GRCh38
NC_000002.11:g.170010992C>T , CM000664.1:g.170010992C>T	GRCh37
NC_000002.10:g.169719238C>T	NCBI36
NG_012634.1:g.213131G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12273G>A MANE Select	ENSP00000496870.1:p.Trp4091Ter
ENST00000649153.1:c.3173G>A
ENST00000650252.1:c.1301G>A	ENSP00000496887.1:p.Gly434Glu
ENST00000263816.7:c.12273G>A	ENSP00000263816.3:p.Trp4091Ter
NM_004525.2:c.12273G>A	NP_004516.2:p.Trp4091Ter
XM_011511183.1:c.12144G>A	XP_011509485.1:p.Trp4048Ter
XM_011511184.1:c.9984G>A	XP_011509486.1:p.Trp3328Ter
NM_004525.3:c.12273G>A MANE Select	NP_004516.2:p.Trp4091Ter
XM_011511183.3:c.12144G>A	XP_011509485.1:p.Trp4048Ter
XM_011511184.2:c.9984G>A	XP_011509486.1:p.Trp3328Ter