Canonical Allele Identifier: CA349137135

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154502-G-T
• MyVariant Identifiers: chr2:g.170011012G>T (hg19) ; chr2:g.169154502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154502G>T , CM000664.2:g.169154502G>T	GRCh38
NC_000002.11:g.170011012G>T , CM000664.1:g.170011012G>T	GRCh37
NC_000002.10:g.169719258G>T	NCBI36
NG_012634.1:g.213111C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12253C>A MANE Select	ENSP00000496870.1:p.Gln4085Lys
ENST00000649153.1:c.3153C>A
ENST00000650252.1:c.1281C>A	ENSP00000496887.1:p.Ser427=
ENST00000263816.7:c.12253C>A	ENSP00000263816.3:p.Gln4085Lys
NM_004525.2:c.12253C>A	NP_004516.2:p.Gln4085Lys
XM_011511183.1:c.12124C>A	XP_011509485.1:p.Gln4042Lys
XM_011511184.1:c.9964C>A	XP_011509486.1:p.Gln3322Lys
NM_004525.3:c.12253C>A MANE Select	NP_004516.2:p.Gln4085Lys
XM_011511183.3:c.12124C>A	XP_011509485.1:p.Gln4042Lys
XM_011511184.2:c.9964C>A	XP_011509486.1:p.Gln3322Lys