Canonical Allele Identifier: CA349137077

Gene: LRP2

Linked Data

• MyVariant Identifiers: chr2:g.170011000A>G (hg19) ; chr2:g.169154490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154490A>G , CM000664.2:g.169154490A>G	GRCh38
NC_000002.11:g.170011000A>G , CM000664.1:g.170011000A>G	GRCh37
NC_000002.10:g.169719246A>G	NCBI36
NG_012634.1:g.213123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12265T>C MANE Select	ENSP00000496870.1:p.Tyr4089His
ENST00000649153.1:c.3165T>C
ENST00000650252.1:c.1293T>C	ENSP00000496887.1:p.Ile431=
ENST00000263816.7:c.12265T>C	ENSP00000263816.3:p.Tyr4089His
NM_004525.2:c.12265T>C	NP_004516.2:p.Tyr4089His
XM_011511183.1:c.12136T>C	XP_011509485.1:p.Tyr4046His
XM_011511184.1:c.9976T>C	XP_011509486.1:p.Tyr3326His
NM_004525.3:c.12265T>C MANE Select	NP_004516.2:p.Tyr4089His
XM_011511183.3:c.12136T>C	XP_011509485.1:p.Tyr4046His
XM_011511184.2:c.9976T>C	XP_011509486.1:p.Tyr3326His