Canonical Allele Identifier: CA349137574

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011108A>C (hg19) ; chr2:g.169154598A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154598A>C , CM000664.2:g.169154598A>C	GRCh38
NC_000002.11:g.170011108A>C , CM000664.1:g.170011108A>C	GRCh37
NC_000002.10:g.169719354A>C	NCBI36
NG_012634.1:g.213015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12157T>G MANE Select	ENSP00000496870.1:p.Ser4053Ala
ENST00000649153.1:c.3057T>G
ENST00000650252.1:c.1185T>G	ENSP00000496887.1:p.Ala395=
ENST00000263816.7:c.12157T>G	ENSP00000263816.3:p.Ser4053Ala
NM_004525.2:c.12157T>G	NP_004516.2:p.Ser4053Ala
XM_011511183.1:c.12028T>G	XP_011509485.1:p.Ser4010Ala
XM_011511184.1:c.9868T>G	XP_011509486.1:p.Ser3290Ala
NM_004525.3:c.12157T>G MANE Select	NP_004516.2:p.Ser4053Ala
XM_011511183.3:c.12028T>G	XP_011509485.1:p.Ser4010Ala
XM_011511184.2:c.9868T>G	XP_011509486.1:p.Ser3290Ala