Canonical Allele Identifier: CA349137510

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154579-G-A
• COSMIC: COSM716827
• MyVariant Identifiers: chr2:g.170011089G>A (hg19) ; chr2:g.169154579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154579G>A , CM000664.2:g.169154579G>A	GRCh38
NC_000002.11:g.170011089G>A , CM000664.1:g.170011089G>A	GRCh37
NC_000002.10:g.169719335G>A	NCBI36
NG_012634.1:g.213034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12176C>T MANE Select	ENSP00000496870.1:p.Pro4059Leu
ENST00000649153.1:c.3076C>T
ENST00000650252.1:c.1204C>T	ENSP00000496887.1:p.Leu402=
ENST00000263816.7:c.12176C>T	ENSP00000263816.3:p.Pro4059Leu
NM_004525.2:c.12176C>T	NP_004516.2:p.Pro4059Leu
XM_011511183.1:c.12047C>T	XP_011509485.1:p.Pro4016Leu
XM_011511184.1:c.9887C>T	XP_011509486.1:p.Pro3296Leu
NM_004525.3:c.12176C>T MANE Select	NP_004516.2:p.Pro4059Leu
XM_011511183.3:c.12047C>T	XP_011509485.1:p.Pro4016Leu
XM_011511184.2:c.9887C>T	XP_011509486.1:p.Pro3296Leu