Canonical Allele Identifier: CA349158270

Gene: LRP2

Linked Data

• gnomAD v4: 2-169259097-G-A
• MyVariant Identifiers: chr2:g.170115607G>A (hg19) ; chr2:g.169259097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259097G>A , CM000664.2:g.169259097G>A	GRCh38
NC_000002.11:g.170115607G>A , CM000664.1:g.170115607G>A	GRCh37
NC_000002.10:g.169823853G>A	NCBI36
NG_012634.1:g.108516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2441C>T MANE Select	ENSP00000496870.1:p.Ala814Val
ENST00000263816.7:c.2441C>T	ENSP00000263816.3:p.Ala814Val
ENST00000443831.1:c.2030C>T	ENSP00000409813.1:p.Ala677Val
NM_004525.2:c.2441C>T	NP_004516.2:p.Ala814Val
XM_011511183.1:c.2441C>T	XP_011509485.1:p.Ala814Val
XM_011511184.1:c.152C>T	XP_011509486.1:p.Ala51Val
XM_011511185.1:c.2441C>T	XP_011509487.1:p.Ala814Val
NM_004525.3:c.2441C>T MANE Select	NP_004516.2:p.Ala814Val
XM_011511183.3:c.2441C>T	XP_011509485.1:p.Ala814Val
XM_011511184.2:c.152C>T	XP_011509486.1:p.Ala51Val