Canonical Allele Identifier: CA349137414

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154553-T-C
• MyVariant Identifiers: chr2:g.170011063T>C (hg19) ; chr2:g.169154553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154553T>C , CM000664.2:g.169154553T>C	GRCh38
NC_000002.11:g.170011063T>C , CM000664.1:g.170011063T>C	GRCh37
NC_000002.10:g.169719309T>C	NCBI36
NG_012634.1:g.213060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12202A>G MANE Select	ENSP00000496870.1:p.Asn4068Asp
ENST00000649153.1:c.3102A>G
ENST00000650252.1:c.1230A>G	ENSP00000496887.1:p.Ile410Met
ENST00000263816.7:c.12202A>G	ENSP00000263816.3:p.Asn4068Asp
NM_004525.2:c.12202A>G	NP_004516.2:p.Asn4068Asp
XM_011511183.1:c.12073A>G	XP_011509485.1:p.Asn4025Asp
XM_011511184.1:c.9913A>G	XP_011509486.1:p.Asn3305Asp
NM_004525.3:c.12202A>G MANE Select	NP_004516.2:p.Asn4068Asp
XM_011511183.3:c.12073A>G	XP_011509485.1:p.Asn4025Asp
XM_011511184.2:c.9913A>G	XP_011509486.1:p.Asn3305Asp