Canonical Allele Identifier: CA1955870

Gene: LRP2

Linked Data

• ClinVar Variation Id: 332202
• ClinVar RCV Id: RCV000333903 ; RCV001726127 ; RCV001702616
• dbSNP Id: rs370823033
• ExAC: 2:170151227 TAA / T
• gnomAD v2: 2-170151227-TAA-T
• gnomAD v3: 2-169294717-TAA-T
• gnomAD v4: 2-169294717-TAA-T
• MyVariant Identifiers: chr2:g.170151236_170151237del (hg19) ; chr2:g.170151232_170151233del (hg19) ; chr2:g.170151230_170151231del (hg19) ; chr2:g.170151228_170151229del (hg19) ; chr2:g.169294726_169294727del (hg38) ; chr2:g.169294720_169294721del (hg38) ; chr2:g.169294718_169294719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169294739_169294740del , CM000664.2:g.169294739_169294740del	GRCh38
NC_000002.11:g.170151249_170151250del , CM000664.1:g.170151249_170151250del	GRCh37
NC_000002.10:g.169859495_169859496del	NCBI36
NG_012634.1:g.72894_72895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.428-9_428-8del MANE Select	ENSP00000496870.1:n.428-9_428-8del
ENST00000263816.7:c.428-9_428-8del	ENSP00000263816.3:n.428-9_428-8del
ENST00000443831.1:c.428-9_428-8del	ENSP00000409813.1:n.428-9_428-8del
NM_004525.2:c.428-9_428-8del	NP_004516.2:n.428-9_428-8del
XM_011511183.1:c.428-9_428-8del	XP_011509485.1:n.428-9_428-8del
XM_011511185.1:c.428-9_428-8del	XP_011509487.1:n.428-9_428-8del
NM_004525.3:c.428-9_428-8del MANE Select	NP_004516.2:n.428-9_428-8del
XM_011511183.3:c.428-9_428-8del	XP_011509485.1:n.428-9_428-8del