Canonical Allele Identifier: CA378048293

Gene: HPSE2

Linked Data

• MyVariant Identifiers: chr10:g.100249817T>G (hg19) ; chr10:g.98490060T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98490060T>G , CM000672.2:g.98490060T>G	GRCh38
NC_000010.10:g.100249817T>G , CM000672.1:g.100249817T>G	GRCh37
NC_000010.9:g.100239807T>G	NCBI36
NG_023416.1:g.750816A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1457A>C MANE Select	ENSP00000359583.3:p.Asn486Thr
ENST00000370546.5:c.1457A>C	ENSP00000359577.1:p.Asn486Thr
ENST00000370549.5:c.1283A>C	ENSP00000359580.1:p.Asn428Thr
ENST00000370552.7:c.1457A>C	ENSP00000359583.3:p.Asn486Thr
ENST00000404542.5:c.848A>C	ENSP00000384384.2:p.Asn283Thr
ENST00000628193.2:c.1121A>C	ENSP00000485916.1:p.Asn374Thr
NM_001166244.1:c.1283A>C	NP_001159716.1:p.Asn428Thr
NM_001166245.1:c.1121A>C	NP_001159717.1:p.Asn374Thr
NM_001166246.1:c.1457A>C	NP_001159718.1:p.Asn486Thr
NM_021828.4:c.1457A>C	NP_068600.4:p.Asn486Thr
XM_006717937.2:c.941A>C	XP_006718000.1:p.Asn314Thr
XM_011540029.1:c.1457A>C	XP_011538331.1:p.Asn486Thr
XM_011540030.1:c.1295A>C	XP_011538332.1:p.Asn432Thr
XM_011540031.1:c.941A>C	XP_011538333.1:p.Asn314Thr
XM_011540033.1:c.653A>C	XP_011538335.1:p.Asn218Thr
XR_945794.1:n.1530A>C
XM_011540031.2:c.941A>C	XP_011538333.1:p.Asn314Thr
XM_017016495.1:c.1457A>C	XP_016871984.1:p.Asn486Thr
XM_017016497.1:c.941A>C	XP_016871986.1:p.Asn314Thr
XM_017016498.1:c.653A>C	XP_016871987.1:p.Asn218Thr
XM_024448119.1:c.941A>C	XP_024303887.1:p.Asn314Thr
XM_024448120.1:c.653A>C	XP_024303888.1:p.Asn218Thr
XR_001747170.1:n.1534A>C
NM_021828.5:c.1457A>C MANE Select	NP_068600.4:p.Asn486Thr