Canonical Allele Identifier: CA1930911168

Gene: HPSE2

Linked Data

• dbSNP Id: rs1941580487
• gnomAD v4: 10-98489918-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98489918G>A , CM000672.2:g.98489918G>A	GRCh38
NC_000010.10:g.100249675G>A , CM000672.1:g.100249675G>A	GRCh37
NC_000010.9:g.100239665G>A	NCBI36
NG_023416.1:g.750958C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1466+133C>T MANE Select	ENSP00000359583.3:n.1466+133C>T
ENST00000370546.5:c.1466+133C>T	ENSP00000359577.1:n.1466+133C>T
ENST00000370549.5:c.1292+133C>T	ENSP00000359580.1:n.1292+133C>T
ENST00000370552.7:c.1466+133C>T	ENSP00000359583.3:n.1466+133C>T
ENST00000404542.5:c.857+133C>T	ENSP00000384384.2:n.857+133C>T
ENST00000628193.2:c.1130+133C>T	ENSP00000485916.1:n.1130+133C>T
NM_001166244.1:c.1292+133C>T	NP_001159716.1:n.1292+133C>T
NM_001166245.1:c.1130+133C>T	NP_001159717.1:n.1130+133C>T
NM_001166246.1:c.1466+133C>T	NP_001159718.1:n.1466+133C>T
NM_021828.4:c.1466+133C>T	NP_068600.4:n.1466+133C>T
XM_006717937.2:c.950+133C>T	XP_006718000.1:n.950+133C>T
XM_011540029.1:c.1466+133C>T	XP_011538331.1:n.1466+133C>T
XM_011540030.1:c.1304+133C>T	XP_011538332.1:n.1304+133C>T
XM_011540031.1:c.950+133C>T	XP_011538333.1:n.950+133C>T
XM_011540033.1:c.662+133C>T	XP_011538335.1:n.662+133C>T
XR_945794.1:n.1539+133C>T
XM_011540031.2:c.950+133C>T	XP_011538333.1:n.950+133C>T
XM_017016495.1:c.1466+133C>T	XP_016871984.1:n.1466+133C>T
XM_017016497.1:c.950+133C>T	XP_016871986.1:n.950+133C>T
XM_017016498.1:c.662+133C>T	XP_016871987.1:n.662+133C>T
XM_024448119.1:c.950+133C>T	XP_024303887.1:n.950+133C>T
XM_024448120.1:c.662+133C>T	XP_024303888.1:n.662+133C>T
XR_001747170.1:n.1543+133C>T
NM_021828.5:c.1466+133C>T MANE Select	NP_068600.4:n.1466+133C>T