Canonical Allele Identifier: CA1952417

Gene: LRP2

Linked Data

• dbSNP Id: rs763158434
• ExAC: 2:169985494 CT / C
• gnomAD v2: 2-169985494-CT-C
• gnomAD v3: 2-169128984-CT-C
• gnomAD v4: 2-169128984-CT-C
• MyVariant Identifiers: chr2:g.169985495del (hg19) ; chr2:g.169128985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128985del , CM000664.2:g.169128985del	GRCh38
NC_000002.11:g.169985495del , CM000664.1:g.169985495del	GRCh37
NC_000002.10:g.169693741del	NCBI36
NG_012634.1:g.238628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13800+28del MANE Select	ENSP00000496870.1:n.13800+28del
ENST00000649153.1:c.4609+28del
ENST00000650252.1:c.2791+28del	ENSP00000496887.1:n.2791+28del
ENST00000263816.7:c.13800+28del	ENSP00000263816.3:n.13800+28del
NM_004525.2:c.13800+28del	NP_004516.2:n.13800+28del
XM_011511183.1:c.13671+28del	XP_011509485.1:n.13671+28del
XM_011511184.1:c.11511+28del	XP_011509486.1:n.11511+28del
NM_004525.3:c.13800+28del MANE Select	NP_004516.2:n.13800+28del
XM_011511183.3:c.13671+28del	XP_011509485.1:n.13671+28del
XM_011511184.2:c.11511+28del	XP_011509486.1:n.11511+28del