Canonical Allele Identifier: CA349136993

Gene: LRP2

Linked Data

• gnomAD v3: 2-169154475-T-G
• gnomAD v4: 2-169154475-T-G
• MyVariant Identifiers: chr2:g.170010985T>G (hg19) ; chr2:g.169154475T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12280A>C MANE Select	ENSP00000496870.1:p.Lys4094Gln
ENST00000649153.1:c.3180A>C
ENST00000650252.1:c.1308A>C	ENSP00000496887.1:p.Pro436=
ENST00000263816.7:c.12280A>C	ENSP00000263816.3:p.Lys4094Gln
NM_004525.2:c.12280A>C	NP_004516.2:p.Lys4094Gln
XM_011511183.1:c.12151A>C	XP_011509485.1:p.Lys4051Gln
XM_011511184.1:c.9991A>C	XP_011509486.1:p.Lys3331Gln
NM_004525.3:c.12280A>C MANE Select	NP_004516.2:p.Lys4094Gln
XM_011511183.3:c.12151A>C	XP_011509485.1:p.Lys4051Gln
XM_011511184.2:c.9991A>C	XP_011509486.1:p.Lys3331Gln