Canonical Allele Identifier: CA349137241

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154517-C-G
• MyVariant Identifiers: chr2:g.170011027C>G (hg19) ; chr2:g.169154517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154517C>G , CM000664.2:g.169154517C>G	GRCh38
NC_000002.11:g.170011027C>G , CM000664.1:g.170011027C>G	GRCh37
NC_000002.10:g.169719273C>G	NCBI36
NG_012634.1:g.213096G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12238G>C MANE Select	ENSP00000496870.1:p.Asp4080His
ENST00000649153.1:c.3138G>C
ENST00000650252.1:c.1266G>C	ENSP00000496887.1:p.Lys422Asn
ENST00000263816.7:c.12238G>C	ENSP00000263816.3:p.Asp4080His
NM_004525.2:c.12238G>C	NP_004516.2:p.Asp4080His
XM_011511183.1:c.12109G>C	XP_011509485.1:p.Asp4037His
XM_011511184.1:c.9949G>C	XP_011509486.1:p.Asp3317His
NM_004525.3:c.12238G>C MANE Select	NP_004516.2:p.Asp4080His
XM_011511183.3:c.12109G>C	XP_011509485.1:p.Asp4037His
XM_011511184.2:c.9949G>C	XP_011509486.1:p.Asp3317His