Canonical Allele Identifier: CA1955178

Gene: LRP2

Linked Data

• dbSNP Id: rs746824246
• ExAC: 2:170103861 T / TA
• gnomAD v2: 2-170103861-T-TA
• gnomAD v3: 2-169247351-T-TA
• gnomAD v4: 2-169247351-T-TA
• COSMIC: COSN509228
• MyVariant Identifiers: chr2:g.170103864_170103865insA (hg19) ; chr2:g.170103861_170103862insA (hg19) ; chr2:g.169247354_169247355insA (hg38) ; chr2:g.169247351_169247352insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169247359dup , CM000664.2:g.169247359dup	GRCh38
NC_000002.11:g.170103869dup , CM000664.1:g.170103869dup	GRCh37
NC_000002.10:g.169812115dup	NCBI36
NG_012634.1:g.120261dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649046.1:c.2908+26dup MANE Select	ENSP00000496870.1:n.2908+26dup
ENST00000263816.7:c.2908+26dup	ENSP00000263816.3:n.2908+26dup
ENST00000443831.1:c.2497+26dup	ENSP00000409813.1:n.2497+26dup
NM_004525.2:c.2908+26dup	NP_004516.2:n.2908+26dup
XM_011511183.1:c.2908+26dup	XP_011509485.1:n.2908+26dup
XM_011511184.1:c.619+26dup	XP_011509486.1:n.619+26dup
XM_011511185.1:c.2908+26dup	XP_011509487.1:n.2908+26dup
NM_004525.3:c.2908+26dup MANE Select	NP_004516.2:n.2908+26dup
XM_011511183.3:c.2908+26dup	XP_011509485.1:n.2908+26dup
XM_011511184.2:c.619+26dup	XP_011509486.1:n.619+26dup