Canonical Allele Identifier: CA429922579
Gene: LRP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170011040T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154530T>G , CM000664.2:g.169154530T>G GRCh38
NC_000002.11:g.170011040T>G , CM000664.1:g.170011040T>G GRCh37
NC_000002.10:g.169719286T>G NCBI36
NG_012634.1:g.213083A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12225A>C MANE Select ENSP00000496870.1:p.Ser4075=
ENST00000649153.1:c.3125A>C
ENST00000650252.1:c.1253A>C ENSP00000496887.1:p.Gln418Pro
ENST00000263816.7:c.12225A>C ENSP00000263816.3:p.Ser4075=
NM_004525.2:c.12225A>C NP_004516.2:p.Ser4075=
XM_011511183.1:c.12096A>C XP_011509485.1:p.Ser4032=
XM_011511184.1:c.9936A>C XP_011509486.1:p.Ser3312=
NM_004525.3:c.12225A>C MANE Select NP_004516.2:p.Ser4075=
XM_011511183.3:c.12096A>C XP_011509485.1:p.Ser4032=
XM_011511184.2:c.9936A>C XP_011509486.1:p.Ser3312=