Canonical Allele Identifier: CA429922642

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011109G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154599G>A , CM000664.2:g.169154599G>A	GRCh38
NC_000002.11:g.170011109G>A , CM000664.1:g.170011109G>A	GRCh37
NC_000002.10:g.169719355G>A	NCBI36
NG_012634.1:g.213014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12156C>T MANE Select	ENSP00000496870.1:p.Ser4052=
ENST00000649153.1:c.3056C>T
ENST00000650252.1:c.1184C>T	ENSP00000496887.1:p.Ala395Val
ENST00000263816.7:c.12156C>T	ENSP00000263816.3:p.Ser4052=
NM_004525.2:c.12156C>T	NP_004516.2:p.Ser4052=
XM_011511183.1:c.12027C>T	XP_011509485.1:p.Ser4009=
XM_011511184.1:c.9867C>T	XP_011509486.1:p.Ser3289=
NM_004525.3:c.12156C>T MANE Select	NP_004516.2:p.Ser4052=
XM_011511183.3:c.12027C>T	XP_011509485.1:p.Ser4009=
XM_011511184.2:c.9867C>T	XP_011509486.1:p.Ser3289=