Canonical Allele Identifier: CA760469626

Gene: LRP2

Linked Data

• dbSNP Id: rs1268894210
• gnomAD v3: 2-169154378-C-A
• gnomAD v4: 2-169154378-C-A
• MyVariant Identifiers: chr2:g.170010888C>A (hg19) ; chr2:g.169154378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154378C>A , CM000664.2:g.169154378C>A	GRCh38
NC_000002.11:g.170010888C>A , CM000664.1:g.170010888C>A	GRCh37
NC_000002.10:g.169719134C>A	NCBI36
NG_012634.1:g.213235G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.12295+82G>T MANE Select	ENSP00000496870.1:n.12295+82G>T
ENST00000649153.1:c.3195+82G>T
ENST00000650252.1:c.1323+82G>T	ENSP00000496887.1:n.1323+82G>T
ENST00000263816.7:c.12295+82G>T	ENSP00000263816.3:n.12295+82G>T
NM_004525.2:c.12295+82G>T	NP_004516.2:n.12295+82G>T
XM_011511183.1:c.12166+82G>T	XP_011509485.1:n.12166+82G>T
XM_011511184.1:c.10006+82G>T	XP_011509486.1:n.10006+82G>T
NM_004525.3:c.12295+82G>T MANE Select	NP_004516.2:n.12295+82G>T
XM_011511183.3:c.12166+82G>T	XP_011509485.1:n.12166+82G>T
XM_011511184.2:c.10006+82G>T	XP_011509486.1:n.10006+82G>T