Canonical Allele Identifier: CA349158599

Gene: LRP2

Linked Data

• gnomAD v4: 2-169259175-C-T
• MyVariant Identifiers: chr2:g.170115685C>T (hg19) ; chr2:g.169259175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259175C>T , CM000664.2:g.169259175C>T	GRCh38
NC_000002.11:g.170115685C>T , CM000664.1:g.170115685C>T	GRCh37
NC_000002.10:g.169823931C>T	NCBI36
NG_012634.1:g.108438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2363G>A MANE Select	ENSP00000496870.1:p.Ser788Asn
ENST00000263816.7:c.2363G>A	ENSP00000263816.3:p.Ser788Asn
ENST00000443831.1:c.1952G>A	ENSP00000409813.1:p.Ser651Asn
NM_004525.2:c.2363G>A	NP_004516.2:p.Ser788Asn
XM_011511183.1:c.2363G>A	XP_011509485.1:p.Ser788Asn
XM_011511184.1:c.74G>A	XP_011509486.1:p.Ser25Asn
XM_011511185.1:c.2363G>A	XP_011509487.1:p.Ser788Asn
NM_004525.3:c.2363G>A MANE Select	NP_004516.2:p.Ser788Asn
XM_011511183.3:c.2363G>A	XP_011509485.1:p.Ser788Asn
XM_011511184.2:c.74G>A	XP_011509486.1:p.Ser25Asn