Canonical Allele Identifier: CA349154406

Gene: LRP2

Linked Data

• dbSNP Id: rs1207918719
• gnomAD v2: 2-170104008-C-G
• gnomAD v4: 2-169247498-C-G
• MyVariant Identifiers: chr2:g.170104008C>G (hg19) ; chr2:g.169247498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247498C>G , CM000664.2:g.169247498C>G	GRCh38
NC_000002.11:g.170104008C>G , CM000664.1:g.170104008C>G	GRCh37
NC_000002.10:g.169812254C>G	NCBI36
NG_012634.1:g.120115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2788G>C MANE Select	ENSP00000496870.1:p.Asp930His
ENST00000263816.7:c.2788G>C	ENSP00000263816.3:p.Asp930His
ENST00000443831.1:c.2377G>C	ENSP00000409813.1:p.Asp793His
NM_004525.2:c.2788G>C	NP_004516.2:p.Asp930His
XM_011511183.1:c.2788G>C	XP_011509485.1:p.Asp930His
XM_011511184.1:c.499G>C	XP_011509486.1:p.Asp167His
XM_011511185.1:c.2788G>C	XP_011509487.1:p.Asp930His
NM_004525.3:c.2788G>C MANE Select	NP_004516.2:p.Asp930His
XM_011511183.3:c.2788G>C	XP_011509485.1:p.Asp930His
XM_011511184.2:c.499G>C	XP_011509486.1:p.Asp167His