Canonical Allele Identifier: CA349149422

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.169985573T>G (hg19) ; chr2:g.169129063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169129063T>G , CM000664.2:g.169129063T>G	GRCh38
NC_000002.11:g.169985573T>G , CM000664.1:g.169985573T>G	GRCh37
NC_000002.10:g.169693819T>G	NCBI36
NG_012634.1:g.238550A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13750A>C MANE Select	ENSP00000496870.1:p.Lys4584Gln
ENST00000649153.1:c.4559A>C
ENST00000650252.1:c.2741A>C	ENSP00000496887.1:n.2741A>C
ENST00000263816.7:c.13750A>C	ENSP00000263816.3:p.Lys4584Gln
NM_004525.2:c.13750A>C	NP_004516.2:p.Lys4584Gln
XM_011511183.1:c.13621A>C	XP_011509485.1:p.Lys4541Gln
XM_011511184.1:c.11461A>C	XP_011509486.1:p.Lys3821Gln
NM_004525.3:c.13750A>C MANE Select	NP_004516.2:p.Lys4584Gln
XM_011511183.3:c.13621A>C	XP_011509485.1:p.Lys4541Gln
XM_011511184.2:c.11461A>C	XP_011509486.1:p.Lys3821Gln