Canonical Allele Identifier: CA1952858

Gene: LRP2

Linked Data

• dbSNP Id: rs748742356
• ExAC: 2:170011036 A / T
• gnomAD v2: 2-170011036-A-T
• gnomAD v4: 2-169154526-A-T
• MyVariant Identifiers: chr2:g.170011036A>T (hg19) ; chr2:g.169154526A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154526A>T , CM000664.2:g.169154526A>T	GRCh38
NC_000002.11:g.170011036A>T , CM000664.1:g.170011036A>T	GRCh37
NC_000002.10:g.169719282A>T	NCBI36
NG_012634.1:g.213087T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12229T>A MANE Select	ENSP00000496870.1:p.Tyr4077Asn
ENST00000649153.1:c.3129T>A
ENST00000650252.1:c.1257T>A	ENSP00000496887.1:p.Ser419Arg
ENST00000263816.7:c.12229T>A	ENSP00000263816.3:p.Tyr4077Asn
NM_004525.2:c.12229T>A	NP_004516.2:p.Tyr4077Asn
XM_011511183.1:c.12100T>A	XP_011509485.1:p.Tyr4034Asn
XM_011511184.1:c.9940T>A	XP_011509486.1:p.Tyr3314Asn
NM_004525.3:c.12229T>A MANE Select	NP_004516.2:p.Tyr4077Asn
XM_011511183.3:c.12100T>A	XP_011509485.1:p.Tyr4034Asn
XM_011511184.2:c.9940T>A	XP_011509486.1:p.Tyr3314Asn