Canonical Allele Identifier: CA1930911384

Gene: HPSE2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98490061T= , CM000672.2:g.98490061T=	GRCh38
NC_000010.10:g.100249818T= , CM000672.1:g.100249818T=	GRCh37
NC_000010.9:g.100239808T=	NCBI36
NG_023416.1:g.750815A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1456A= MANE Select	ENSP00000359583.3:p.Asn486=
ENST00000370546.5:c.1456A=	ENSP00000359577.1:p.Asn486=
ENST00000370549.5:c.1282A=	ENSP00000359580.1:p.Asn428=
ENST00000370552.7:c.1456A=	ENSP00000359583.3:p.Asn486=
ENST00000404542.5:c.847A=	ENSP00000384384.2:p.Asn283=
ENST00000628193.2:c.1120A=	ENSP00000485916.1:p.Asn374=
NM_001166244.1:c.1282A=	NP_001159716.1:p.Asn428=
NM_001166245.1:c.1120A=	NP_001159717.1:p.Asn374=
NM_001166246.1:c.1456A=	NP_001159718.1:p.Asn486=
NM_021828.4:c.1456A=	NP_068600.4:p.Asn486=
XM_006717937.2:c.940A=	XP_006718000.1:p.Asn314=
XM_011540029.1:c.1456A=	XP_011538331.1:p.Asn486=
XM_011540030.1:c.1294A=	XP_011538332.1:p.Asn432=
XM_011540031.1:c.940A=	XP_011538333.1:p.Asn314=
XM_011540033.1:c.652A=	XP_011538335.1:p.Asn218=
XR_945794.1:n.1529A=
XM_011540031.2:c.940A=	XP_011538333.1:p.Asn314=
XM_017016495.1:c.1456A=	XP_016871984.1:p.Asn486=
XM_017016497.1:c.940A=	XP_016871986.1:p.Asn314=
XM_017016498.1:c.652A=	XP_016871987.1:p.Asn218=
XM_024448119.1:c.940A=	XP_024303887.1:p.Asn314=
XM_024448120.1:c.652A=	XP_024303888.1:p.Asn218=
XR_001747170.1:n.1533A=
NM_021828.5:c.1456A= MANE Select	NP_068600.4:p.Asn486=