Canonical Allele Identifier: CA349158248

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170115601T>G (hg19) ; chr2:g.169259091T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259091T>G , CM000664.2:g.169259091T>G	GRCh38
NC_000002.11:g.170115601T>G , CM000664.1:g.170115601T>G	GRCh37
NC_000002.10:g.169823847T>G	NCBI36
NG_012634.1:g.108522A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2447A>C MANE Select	ENSP00000496870.1:p.Lys816Thr
ENST00000263816.7:c.2447A>C	ENSP00000263816.3:p.Lys816Thr
ENST00000443831.1:c.2036A>C	ENSP00000409813.1:p.Lys679Thr
NM_004525.2:c.2447A>C	NP_004516.2:p.Lys816Thr
XM_011511183.1:c.2447A>C	XP_011509485.1:p.Lys816Thr
XM_011511184.1:c.158A>C	XP_011509486.1:p.Lys53Thr
XM_011511185.1:c.2447A>C	XP_011509487.1:p.Lys816Thr
NM_004525.3:c.2447A>C MANE Select	NP_004516.2:p.Lys816Thr
XM_011511183.3:c.2447A>C	XP_011509485.1:p.Lys816Thr
XM_011511184.2:c.158A>C	XP_011509486.1:p.Lys53Thr