Canonical Allele Identifier: CA349137401

Gene: LRP2

Linked Data

• dbSNP Id: rs1200204245
• gnomAD v4: 2-169154550-G-C
• MyVariant Identifiers: chr2:g.170011060G>C (hg19) ; chr2:g.169154550G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154550G>C , CM000664.2:g.169154550G>C	GRCh38
NC_000002.11:g.170011060G>C , CM000664.1:g.170011060G>C	GRCh37
NC_000002.10:g.169719306G>C	NCBI36
NG_012634.1:g.213063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12205C>G MANE Select	ENSP00000496870.1:p.Leu4069Val
ENST00000649153.1:c.3105C>G
ENST00000650252.1:c.1233C>G	ENSP00000496887.1:p.Ile411Met
ENST00000263816.7:c.12205C>G	ENSP00000263816.3:p.Leu4069Val
NM_004525.2:c.12205C>G	NP_004516.2:p.Leu4069Val
XM_011511183.1:c.12076C>G	XP_011509485.1:p.Leu4026Val
XM_011511184.1:c.9916C>G	XP_011509486.1:p.Leu3306Val
NM_004525.3:c.12205C>G MANE Select	NP_004516.2:p.Leu4069Val
XM_011511183.3:c.12076C>G	XP_011509485.1:p.Leu4026Val
XM_011511184.2:c.9916C>G	XP_011509486.1:p.Leu3306Val