Canonical Allele Identifier: CA349136954

Gene: LRP2

Linked Data

• dbSNP Id: rs777671589
• MyVariant Identifiers: chr2:g.170010979T>G (hg19) ; chr2:g.169154469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154469T>G , CM000664.2:g.169154469T>G	GRCh38
NC_000002.11:g.170010979T>G , CM000664.1:g.170010979T>G	GRCh37
NC_000002.10:g.169719225T>G	NCBI36
NG_012634.1:g.213144A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12286A>C MANE Select	ENSP00000496870.1:p.Ile4096Leu
ENST00000649153.1:c.3186A>C
ENST00000650252.1:c.1314A>C	ENSP00000496887.1:p.Thr438=
ENST00000263816.7:c.12286A>C	ENSP00000263816.3:p.Ile4096Leu
NM_004525.2:c.12286A>C	NP_004516.2:p.Ile4096Leu
XM_011511183.1:c.12157A>C	XP_011509485.1:p.Ile4053Leu
XM_011511184.1:c.9997A>C	XP_011509486.1:p.Ile3333Leu
NM_004525.3:c.12286A>C MANE Select	NP_004516.2:p.Ile4096Leu
XM_011511183.3:c.12157A>C	XP_011509485.1:p.Ile4053Leu
XM_011511184.2:c.9997A>C	XP_011509486.1:p.Ile3333Leu