Canonical Allele Identifier: CA2661815135

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154530-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154533_169154534del , CM000664.2:g.169154533_169154534del	GRCh38
NC_000002.11:g.170011043_170011044del , CM000664.1:g.170011043_170011044del	GRCh37
NC_000002.10:g.169719289_169719290del	NCBI36
NG_012634.1:g.213081_213082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12223_12224del MANE Select	ENSP00000496870.1:p.Ser4075ArgfsTer6
ENST00000649153.1:c.3123_3124del
ENST00000650252.1:c.1251_1252del	ENSP00000496887.1:p.Gln418GlufsTer?
ENST00000263816.7:c.12223_12224del	ENSP00000263816.3:p.Ser4075ArgfsTer6
NM_004525.2:c.12223_12224del	NP_004516.2:p.Ser4075ArgfsTer6
XM_011511183.1:c.12094_12095del	XP_011509485.1:p.Ser4032ArgfsTer6
XM_011511184.1:c.9934_9935del	XP_011509486.1:p.Ser3312ArgfsTer6
NM_004525.3:c.12223_12224del MANE Select	NP_004516.2:p.Ser4075ArgfsTer6
XM_011511183.3:c.12094_12095del	XP_011509485.1:p.Ser4032ArgfsTer6
XM_011511184.2:c.9934_9935del	XP_011509486.1:p.Ser3312ArgfsTer6