Canonical Allele Identifier: CA59913657

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169139071C>T , CM000664.2:g.169139071C>T	GRCh38
NC_000002.11:g.169995581C>T , CM000664.1:g.169995581C>T	GRCh37
NC_000002.10:g.169703827C>T	NCBI36
NG_012634.1:g.228542G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004525.3:c.13388+180G>A MANE Select	NP_004516.2:n.13388+180G>A
ENST00000649046.1:c.13388+180G>A MANE Select	ENSP00000496870.1:n.13388+180G>A
NM_004525.2:c.13388+180G>A	NP_004516.2:n.13388+180G>A
ENST00000263816.7:c.13388+180G>A	ENSP00000263816.3:n.13388+180G>A
ENST00000491228.1:n.242+180G>A
ENST00000649153.1:c.4197+180G>A
ENST00000650252.1:c.2379+180G>A	ENSP00000496887.1:n.2379+180G>A
XM_011511183.1:c.13259+180G>A	XP_011509485.1:n.13259+180G>A
XM_011511183.3:c.13259+180G>A	XP_011509485.1:n.13259+180G>A
XM_011511184.1:c.11099+180G>A	XP_011509486.1:n.11099+180G>A
XM_011511184.2:c.11099+180G>A	XP_011509486.1:n.11099+180G>A