Canonical Allele Identifier: CA349137034

Gene: LRP2

Linked Data

• dbSNP Id: rs2105358839
• MyVariant Identifiers: chr2:g.170010992C>A (hg19) ; chr2:g.169154482C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12273G>T MANE Select	ENSP00000496870.1:p.Trp4091Cys
ENST00000649153.1:c.3173G>T
ENST00000650252.1:c.1301G>T	ENSP00000496887.1:p.Gly434Val
ENST00000263816.7:c.12273G>T	ENSP00000263816.3:p.Trp4091Cys
NM_004525.2:c.12273G>T	NP_004516.2:p.Trp4091Cys
XM_011511183.1:c.12144G>T	XP_011509485.1:p.Trp4048Cys
XM_011511184.1:c.9984G>T	XP_011509486.1:p.Trp3328Cys
NM_004525.3:c.12273G>T MANE Select	NP_004516.2:p.Trp4091Cys
XM_011511183.3:c.12144G>T	XP_011509485.1:p.Trp4048Cys
XM_011511184.2:c.9984G>T	XP_011509486.1:p.Trp3328Cys