Canonical Allele Identifier: CA429922557
Gene: LRP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170011004A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154494A>G , CM000664.2:g.169154494A>G GRCh38
NC_000002.11:g.170011004A>G , CM000664.1:g.170011004A>G GRCh37
NC_000002.10:g.169719250A>G NCBI36
NG_012634.1:g.213119T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.12261T>C MANE Select ENSP00000496870.1:p.Val4087=
ENST00000649153.1:c.3161T>C
ENST00000650252.1:c.1289T>C ENSP00000496887.1:p.Leu430Ser
ENST00000263816.7:c.12261T>C ENSP00000263816.3:p.Val4087=
NM_004525.2:c.12261T>C NP_004516.2:p.Val4087=
XM_011511183.1:c.12132T>C XP_011509485.1:p.Val4044=
XM_011511184.1:c.9972T>C XP_011509486.1:p.Val3324=
NM_004525.3:c.12261T>C MANE Select NP_004516.2:p.Val4087=
XM_011511183.3:c.12132T>C XP_011509485.1:p.Val4044=
XM_011511184.2:c.9972T>C XP_011509486.1:p.Val3324=