Canonical Allele Identifier: CA1955182

Gene: LRP2

Linked Data

• ClinVar Variation Id: 3008523
• ClinVar RCV Id: RCV003861650
• dbSNP Id: rs759074601
• ExAC: 2:170103878 T / A
• gnomAD v2: 2-170103878-T-A
• gnomAD v4: 2-169247368-T-A
• MyVariant Identifiers: chr2:g.170103878T>A (hg19) ; chr2:g.169247368T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247368T>A , CM000664.2:g.169247368T>A	GRCh38
NC_000002.11:g.170103878T>A , CM000664.1:g.170103878T>A	GRCh37
NC_000002.10:g.169812124T>A	NCBI36
NG_012634.1:g.120245A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.2908+10A>T MANE Select	ENSP00000496870.1:n.2908+10A>T
ENST00000263816.7:c.2908+10A>T	ENSP00000263816.3:n.2908+10A>T
ENST00000443831.1:c.2497+10A>T	ENSP00000409813.1:n.2497+10A>T
NM_004525.2:c.2908+10A>T	NP_004516.2:n.2908+10A>T
XM_011511183.1:c.2908+10A>T	XP_011509485.1:n.2908+10A>T
XM_011511184.1:c.619+10A>T	XP_011509486.1:n.619+10A>T
XM_011511185.1:c.2908+10A>T	XP_011509487.1:n.2908+10A>T
NM_004525.3:c.2908+10A>T MANE Select	NP_004516.2:n.2908+10A>T
XM_011511183.3:c.2908+10A>T	XP_011509485.1:n.2908+10A>T
XM_011511184.2:c.619+10A>T	XP_011509486.1:n.619+10A>T