Canonical Allele Identifier: CA153548

Gene: LRP2

Identifiers and link-outs to other resources

• ClinVar Variation Id: 129500
• ClinVar RCV Id: RCV000117508 ; RCV000310751
• dbSNP Id: rs2075252
• ExAC: 2:170010985 T / C
• gnomAD: 2:170010985 T / C
• MyVariant Identifiers: chr2:g.170010985T>C (hg19) ; chr2:g.169154475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154475T>C , CM000664.2:g.169154475T>C	GRCh38
NC_000002.11:g.170010985T>C , CM000664.1:g.170010985T>C	GRCh37
NC_000002.10:g.169719231T>C	NCBI36
NG_012634.1:g.213138A>G

Transcript Alleles

HGVS	Amino-acid change
NM_004525.2:c.12280A>G VV	NP_004516.2:p.Lys4094Glu
XM_011511183.1:c.12151A>G	XP_011509485.1:p.Lys4051Glu
XM_011511184.1:c.9991A>G	XP_011509486.1:p.Lys3331Glu
NM_004525.3:c.12280A>G VV MANE Preferred	NP_004516.2:p.Lys4094Glu
XM_011511183.3:c.12151A>G	XP_011509485.1:p.Lys4051Glu
XM_011511184.2:c.9991A>G	XP_011509486.1:p.Lys3331Glu
ENST00000263816.7:c.12280A>G	ENSP00000263816.3:p.Lys4094Glu