Canonical Allele Identifier: CA2971637270

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169128959G>A , CM000664.2:g.169128959G>A	GRCh38
NC_000002.11:g.169985469G>A , CM000664.1:g.169985469G>A	GRCh37
NC_000002.10:g.169693715G>A	NCBI36
NG_012634.1:g.238654C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004525.3:c.13800+54C>T MANE Select	NP_004516.2:n.13800+54C>T
ENST00000649046.1:c.13800+54C>T MANE Select	ENSP00000496870.1:n.13800+54C>T
NM_004525.2:c.13800+54C>T	NP_004516.2:n.13800+54C>T
ENST00000263816.7:c.13800+54C>T	ENSP00000263816.3:n.13800+54C>T
ENST00000649153.1:c.4609+54C>T
ENST00000650252.1:c.2791+54C>T	ENSP00000496887.1:n.2791+54C>T
XM_011511183.1:c.13671+54C>T	XP_011509485.1:n.13671+54C>T
XM_011511183.3:c.13671+54C>T	XP_011509485.1:n.13671+54C>T
XM_011511184.1:c.11511+54C>T	XP_011509486.1:n.11511+54C>T
XM_011511184.2:c.11511+54C>T	XP_011509486.1:n.11511+54C>T