Canonical Allele Identifier: CA349158625

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170115692C>A (hg19) ; chr2:g.169259182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259182C>A , CM000664.2:g.169259182C>A	GRCh38
NC_000002.11:g.170115692C>A , CM000664.1:g.170115692C>A	GRCh37
NC_000002.10:g.169823938C>A	NCBI36
NG_012634.1:g.108431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2356G>T MANE Select	ENSP00000496870.1:p.Val786Phe
ENST00000263816.7:c.2356G>T	ENSP00000263816.3:p.Val786Phe
ENST00000443831.1:c.1945G>T	ENSP00000409813.1:p.Val649Phe
NM_004525.2:c.2356G>T	NP_004516.2:p.Val786Phe
XM_011511183.1:c.2356G>T	XP_011509485.1:p.Val786Phe
XM_011511184.1:c.67G>T	XP_011509486.1:p.Val23Phe
XM_011511185.1:c.2356G>T	XP_011509487.1:p.Val786Phe
NM_004525.3:c.2356G>T MANE Select	NP_004516.2:p.Val786Phe
XM_011511183.3:c.2356G>T	XP_011509485.1:p.Val786Phe
XM_011511184.2:c.67G>T	XP_011509486.1:p.Val23Phe