Canonical Allele Identifier: CA1952863

Gene: LRP2

Linked Data

• ClinVar Variation Id: 1381069
• ClinVar RCV Id: RCV001921858
• dbSNP Id: rs367679338
• ExAC: 2:170011083 T / C
• gnomAD v2: 2-170011083-T-C
• gnomAD v3: 2-169154573-T-C
• gnomAD v4: 2-169154573-T-C
• MyVariant Identifiers: chr2:g.170011083T>C (hg19) ; chr2:g.169154573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154573T>C , CM000664.2:g.169154573T>C	GRCh38
NC_000002.11:g.170011083T>C , CM000664.1:g.170011083T>C	GRCh37
NC_000002.10:g.169719329T>C	NCBI36
NG_012634.1:g.213040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12182A>G MANE Select	ENSP00000496870.1:p.Asn4061Ser
ENST00000649153.1:c.3082A>G
ENST00000650252.1:c.1210A>G	ENSP00000496887.1:p.Met404Val
ENST00000263816.7:c.12182A>G	ENSP00000263816.3:p.Asn4061Ser
NM_004525.2:c.12182A>G	NP_004516.2:p.Asn4061Ser
XM_011511183.1:c.12053A>G	XP_011509485.1:p.Asn4018Ser
XM_011511184.1:c.9893A>G	XP_011509486.1:p.Asn3298Ser
NM_004525.3:c.12182A>G MANE Select	NP_004516.2:p.Asn4061Ser
XM_011511183.3:c.12053A>G	XP_011509485.1:p.Asn4018Ser
XM_011511184.2:c.9893A>G	XP_011509486.1:p.Asn3298Ser