Canonical Allele Identifier: CA349137104

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154495-A-G
• MyVariant Identifiers: chr2:g.170011005A>G (hg19) ; chr2:g.169154495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154495A>G , CM000664.2:g.169154495A>G	GRCh38
NC_000002.11:g.170011005A>G , CM000664.1:g.170011005A>G	GRCh37
NC_000002.10:g.169719251A>G	NCBI36
NG_012634.1:g.213118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12260T>C MANE Select	ENSP00000496870.1:p.Val4087Ala
ENST00000649153.1:c.3160T>C
ENST00000650252.1:c.1288T>C	ENSP00000496887.1:p.Leu430=
ENST00000263816.7:c.12260T>C	ENSP00000263816.3:p.Val4087Ala
NM_004525.2:c.12260T>C	NP_004516.2:p.Val4087Ala
XM_011511183.1:c.12131T>C	XP_011509485.1:p.Val4044Ala
XM_011511184.1:c.9971T>C	XP_011509486.1:p.Val3324Ala
NM_004525.3:c.12260T>C MANE Select	NP_004516.2:p.Val4087Ala
XM_011511183.3:c.12131T>C	XP_011509485.1:p.Val4044Ala
XM_011511184.2:c.9971T>C	XP_011509486.1:p.Val3324Ala