Canonical Allele Identifier: CA378048223

Gene: HPSE2

Linked Data

• gnomAD v4: 10-98490052-T-C
• MyVariant Identifiers: chr10:g.100249809T>C (hg19) ; chr10:g.98490052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98490052T>C , CM000672.2:g.98490052T>C	GRCh38
NC_000010.10:g.100249809T>C , CM000672.1:g.100249809T>C	GRCh37
NC_000010.9:g.100239799T>C	NCBI36
NG_023416.1:g.750824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1465A>G MANE Select	ENSP00000359583.3:p.Asn489Asp
ENST00000370546.5:c.1465A>G	ENSP00000359577.1:p.Asn489Asp
ENST00000370549.5:c.1291A>G	ENSP00000359580.1:p.Asn431Asp
ENST00000370552.7:c.1465A>G	ENSP00000359583.3:p.Asn489Asp
ENST00000404542.5:c.856A>G	ENSP00000384384.2:p.Asn286Asp
ENST00000628193.2:c.1129A>G	ENSP00000485916.1:p.Asn377Asp
NM_001166244.1:c.1291A>G	NP_001159716.1:p.Asn431Asp
NM_001166245.1:c.1129A>G	NP_001159717.1:p.Asn377Asp
NM_001166246.1:c.1465A>G	NP_001159718.1:p.Asn489Asp
NM_021828.4:c.1465A>G	NP_068600.4:p.Asn489Asp
XM_006717937.2:c.949A>G	XP_006718000.1:p.Asn317Asp
XM_011540029.1:c.1465A>G	XP_011538331.1:p.Lys489Glu
XM_011540030.1:c.1303A>G	XP_011538332.1:p.Asn435Asp
XM_011540031.1:c.949A>G	XP_011538333.1:p.Asn317Asp
XM_011540033.1:c.661A>G	XP_011538335.1:p.Asn221Asp
XR_945794.1:n.1538A>G
XM_011540031.2:c.949A>G	XP_011538333.1:p.Asn317Asp
XM_017016495.1:c.1465A>G	XP_016871984.1:p.Asn489Asp
XM_017016497.1:c.949A>G	XP_016871986.1:p.Asn317Asp
XM_017016498.1:c.661A>G	XP_016871987.1:p.Asn221Asp
XM_024448119.1:c.949A>G	XP_024303887.1:p.Asn317Asp
XM_024448120.1:c.661A>G	XP_024303888.1:p.Asn221Asp
XR_001747170.1:n.1542A>G
NM_021828.5:c.1465A>G MANE Select	NP_068600.4:p.Asn489Asp