Canonical Allele Identifier: CA13227605
Gene: HPSE2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10786436

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98540425C>T , CM000672.2:g.98540425C>T GRCh38
NC_000010.10:g.100300182C>T , CM000672.1:g.100300182C>T GRCh37
NC_000010.9:g.100290172C>T NCBI36
NG_023416.1:g.700451G>A

Transcript Alleles

HGVS Amino-acid change
NM_001166244.1:c.1147-50229G>A VV NP_001159716.1:p.=
NM_001166245.1:c.985-50229G>A VV NP_001159717.1:p.=
NM_001166246.1:c.1321-50229G>A VV NP_001159718.1:p.=
NM_021828.4:c.1321-50229G>A VV NP_068600.4:p.=
XM_006717937.2:c.805-50229G>A XP_006718000.1:p.=
XM_011540029.1:c.1321-50229G>A XP_011538331.1:p.=
XM_011540030.1:c.1159-50229G>A XP_011538332.1:p.=
XM_011540031.1:c.805-50229G>A XP_011538333.1:p.=
XM_011540033.1:c.517-50229G>A XP_011538335.1:p.=
XR_945794.1:n.1394-50229G>A
XM_011540031.2:c.805-50229G>A XP_011538333.1:p.=
XM_017016495.1:c.1321-50229G>A XP_016871984.1:p.=
XM_017016497.1:c.805-50229G>A XP_016871986.1:p.=
XM_017016498.1:c.517-50229G>A XP_016871987.1:p.=
XM_024448119.1:c.805-50229G>A XP_024303887.1:p.=
XM_024448120.1:c.517-50229G>A XP_024303888.1:p.=
XR_001747170.1:n.1398-50229G>A
ENST00000370546.5:n.1321-50229G>A ENSP00000359577.1:p.=
ENST00000370549.5:c.1147-50229G>A ENSP00000359580.1:p.=
ENST00000370552.7:c.1321-50229G>A ENSP00000359583.3:p.=
ENST00000404542.5:c.712-50229G>A ENSP00000384384.2:p.=
ENST00000628193.2:c.985-50229G>A ENSP00000485916.1:p.=