Canonical Allele Identifier: CA1955302

Gene: LRP2

Linked Data

• dbSNP Id: rs781156012
• ExAC: 2:170115617 T / G
• gnomAD v2: 2-170115617-T-G
• gnomAD v3: 2-169259107-T-G
• gnomAD v4: 2-169259107-T-G
• MyVariant Identifiers: chr2:g.170115617T>G (hg19) ; chr2:g.169259107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259107T>G , CM000664.2:g.169259107T>G	GRCh38
NC_000002.11:g.170115617T>G , CM000664.1:g.170115617T>G	GRCh37
NC_000002.10:g.169823863T>G	NCBI36
NG_012634.1:g.108506A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2431A>C MANE Select	ENSP00000496870.1:p.Met811Leu
ENST00000263816.7:c.2431A>C	ENSP00000263816.3:p.Met811Leu
ENST00000443831.1:c.2020A>C	ENSP00000409813.1:p.Met674Leu
NM_004525.2:c.2431A>C	NP_004516.2:p.Met811Leu
XM_011511183.1:c.2431A>C	XP_011509485.1:p.Met811Leu
XM_011511184.1:c.142A>C	XP_011509486.1:p.Met48Leu
XM_011511185.1:c.2431A>C	XP_011509487.1:p.Met811Leu
NM_004525.3:c.2431A>C MANE Select	NP_004516.2:p.Met811Leu
XM_011511183.3:c.2431A>C	XP_011509485.1:p.Met811Leu
XM_011511184.2:c.142A>C	XP_011509486.1:p.Met48Leu