Canonical Allele Identifier: CA349158639

Gene: LRP2

Linked Data

• dbSNP Id: rs1690434741
• gnomAD v4: 2-169259185-T-A
• MyVariant Identifiers: chr2:g.170115695T>A (hg19) ; chr2:g.169259185T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259185T>A , CM000664.2:g.169259185T>A	GRCh38
NC_000002.11:g.170115695T>A , CM000664.1:g.170115695T>A	GRCh37
NC_000002.10:g.169823941T>A	NCBI36
NG_012634.1:g.108428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2353A>T MANE Select	ENSP00000496870.1:p.Asn785Tyr
ENST00000263816.7:c.2353A>T	ENSP00000263816.3:p.Asn785Tyr
ENST00000443831.1:c.1942A>T	ENSP00000409813.1:p.Asn648Tyr
NM_004525.2:c.2353A>T	NP_004516.2:p.Asn785Tyr
XM_011511183.1:c.2353A>T	XP_011509485.1:p.Asn785Tyr
XM_011511184.1:c.64A>T	XP_011509486.1:p.Asn22Tyr
XM_011511185.1:c.2353A>T	XP_011509487.1:p.Asn785Tyr
NM_004525.3:c.2353A>T MANE Select	NP_004516.2:p.Asn785Tyr
XM_011511183.3:c.2353A>T	XP_011509485.1:p.Asn785Tyr
XM_011511184.2:c.64A>T	XP_011509486.1:p.Asn22Tyr