Canonical Allele Identifier: CA471111333

Gene: HPSE2

Linked Data

• COSMIC: COSM5814789 ; COSM5814790
• MyVariant Identifiers: chr10:g.100249819T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98490062T>A , CM000672.2:g.98490062T>A	GRCh38
NC_000010.10:g.100249819T>A , CM000672.1:g.100249819T>A	GRCh37
NC_000010.9:g.100239809T>A	NCBI36
NG_023416.1:g.750814A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1455A>T MANE Select	ENSP00000359583.3:p.Thr485=
ENST00000370546.5:c.1455A>T	ENSP00000359577.1:p.Thr485=
ENST00000370549.5:c.1281A>T	ENSP00000359580.1:p.Thr427=
ENST00000370552.7:c.1455A>T	ENSP00000359583.3:p.Thr485=
ENST00000404542.5:c.846A>T	ENSP00000384384.2:p.Thr282=
ENST00000628193.2:c.1119A>T	ENSP00000485916.1:p.Thr373=
NM_001166244.1:c.1281A>T	NP_001159716.1:p.Thr427=
NM_001166245.1:c.1119A>T	NP_001159717.1:p.Thr373=
NM_001166246.1:c.1455A>T	NP_001159718.1:p.Thr485=
NM_021828.4:c.1455A>T	NP_068600.4:p.Thr485=
XM_006717937.2:c.939A>T	XP_006718000.1:p.Thr313=
XM_011540029.1:c.1455A>T	XP_011538331.1:p.Thr485=
XM_011540030.1:c.1293A>T	XP_011538332.1:p.Thr431=
XM_011540031.1:c.939A>T	XP_011538333.1:p.Thr313=
XM_011540033.1:c.651A>T	XP_011538335.1:p.Thr217=
XR_945794.1:n.1528A>T
XM_011540031.2:c.939A>T	XP_011538333.1:p.Thr313=
XM_017016495.1:c.1455A>T	XP_016871984.1:p.Thr485=
XM_017016497.1:c.939A>T	XP_016871986.1:p.Thr313=
XM_017016498.1:c.651A>T	XP_016871987.1:p.Thr217=
XM_024448119.1:c.939A>T	XP_024303887.1:p.Thr313=
XM_024448120.1:c.651A>T	XP_024303888.1:p.Thr217=
XR_001747170.1:n.1532A>T
NM_021828.5:c.1455A>T MANE Select	NP_068600.4:p.Thr485=