Canonical Allele Identifier: CA349158669

Gene: LRP2

Linked Data

• gnomAD v4: 2-169259192-C-A
• MyVariant Identifiers: chr2:g.170115702C>A (hg19) ; chr2:g.169259192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259192C>A , CM000664.2:g.169259192C>A	GRCh38
NC_000002.11:g.170115702C>A , CM000664.1:g.170115702C>A	GRCh37
NC_000002.10:g.169823948C>A	NCBI36
NG_012634.1:g.108421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2346G>T MANE Select	ENSP00000496870.1:p.Arg782Ser
ENST00000263816.7:c.2346G>T	ENSP00000263816.3:p.Arg782Ser
ENST00000443831.1:c.1935G>T	ENSP00000409813.1:p.Arg645Ser
NM_004525.2:c.2346G>T	NP_004516.2:p.Arg782Ser
XM_011511183.1:c.2346G>T	XP_011509485.1:p.Arg782Ser
XM_011511184.1:c.57G>T	XP_011509486.1:p.Arg19Ser
XM_011511185.1:c.2346G>T	XP_011509487.1:p.Arg782Ser
NM_004525.3:c.2346G>T MANE Select	NP_004516.2:p.Arg782Ser
XM_011511183.3:c.2346G>T	XP_011509485.1:p.Arg782Ser
XM_011511184.2:c.57G>T	XP_011509486.1:p.Arg19Ser