Canonical Allele Identifier: CA349149419

Gene: LRP2

Linked Data

• dbSNP Id: rs1685193687
• MyVariant Identifiers: chr2:g.169985573T>A (hg19) ; chr2:g.169129063T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13750A>T MANE Select	ENSP00000496870.1:p.Lys4584Ter
ENST00000649153.1:c.4559A>T
ENST00000650252.1:c.2741A>T	ENSP00000496887.1:n.2741A>T
ENST00000263816.7:c.13750A>T	ENSP00000263816.3:p.Lys4584Ter
NM_004525.2:c.13750A>T	NP_004516.2:p.Lys4584Ter
XM_011511183.1:c.13621A>T	XP_011509485.1:p.Lys4541Ter
XM_011511184.1:c.11461A>T	XP_011509486.1:p.Lys3821Ter
NM_004525.3:c.13750A>T MANE Select	NP_004516.2:p.Lys4584Ter
XM_011511183.3:c.13621A>T	XP_011509485.1:p.Lys4541Ter
XM_011511184.2:c.11461A>T	XP_011509486.1:p.Lys3821Ter