Canonical Allele Identifier: CA349137389

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011057A>C (hg19) ; chr2:g.169154547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154547A>C , CM000664.2:g.169154547A>C	GRCh38
NC_000002.11:g.170011057A>C , CM000664.1:g.170011057A>C	GRCh37
NC_000002.10:g.169719303A>C	NCBI36
NG_012634.1:g.213066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12208T>G MANE Select	ENSP00000496870.1:p.Ser4070Ala
ENST00000649153.1:c.3108T>G
ENST00000650252.1:c.1236T>G	ENSP00000496887.1:p.Ser412=
ENST00000263816.7:c.12208T>G	ENSP00000263816.3:p.Ser4070Ala
NM_004525.2:c.12208T>G	NP_004516.2:p.Ser4070Ala
XM_011511183.1:c.12079T>G	XP_011509485.1:p.Ser4027Ala
XM_011511184.1:c.9919T>G	XP_011509486.1:p.Ser3307Ala
NM_004525.3:c.12208T>G MANE Select	NP_004516.2:p.Ser4070Ala
XM_011511183.3:c.12079T>G	XP_011509485.1:p.Ser4027Ala
XM_011511184.2:c.9919T>G	XP_011509486.1:p.Ser3307Ala