Canonical Allele Identifier: CA349137160

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011015T>G (hg19) ; chr2:g.169154505T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154505T>G , CM000664.2:g.169154505T>G	GRCh38
NC_000002.11:g.170011015T>G , CM000664.1:g.170011015T>G	GRCh37
NC_000002.10:g.169719261T>G	NCBI36
NG_012634.1:g.213108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12250A>C MANE Select	ENSP00000496870.1:p.Ile4084Leu
ENST00000649153.1:c.3150A>C
ENST00000650252.1:c.1278A>C	ENSP00000496887.1:p.Ile426=
ENST00000263816.7:c.12250A>C	ENSP00000263816.3:p.Ile4084Leu
NM_004525.2:c.12250A>C	NP_004516.2:p.Ile4084Leu
XM_011511183.1:c.12121A>C	XP_011509485.1:p.Ile4041Leu
XM_011511184.1:c.9961A>C	XP_011509486.1:p.Ile3321Leu
NM_004525.3:c.12250A>C MANE Select	NP_004516.2:p.Ile4084Leu
XM_011511183.3:c.12121A>C	XP_011509485.1:p.Ile4041Leu
XM_011511184.2:c.9961A>C	XP_011509486.1:p.Ile3321Leu