Canonical Allele Identifier: CA13227605
Gene: HPSE2 HGNC NCBI

Linked Data

dbSNP Id: rs10786436
gnomAD v2: 10-100300182-C-T
gnomAD v3: 10-98540425-C-T
gnomAD v4: 10-98540425-C-T
MyVariant Identifiers: chr10:g.100300182C>T (hg19) chr10:g.98540425C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98540425C>T , CM000672.2:g.98540425C>T GRCh38
NC_000010.10:g.100300182C>T , CM000672.1:g.100300182C>T GRCh37
NC_000010.9:g.100290172C>T NCBI36
NG_023416.1:g.700451G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370552.8:c.1321-50229G>A MANE Select ENSP00000359583.3:n.1321-50229G>A
ENST00000370546.5:c.1321-50229G>A ENSP00000359577.1:n.1321-50229G>A
ENST00000370549.5:c.1147-50229G>A ENSP00000359580.1:n.1147-50229G>A
ENST00000370552.7:c.1321-50229G>A ENSP00000359583.3:n.1321-50229G>A
ENST00000404542.5:c.712-50229G>A ENSP00000384384.2:n.712-50229G>A
ENST00000628193.2:c.985-50229G>A ENSP00000485916.1:n.985-50229G>A
NM_001166244.1:c.1147-50229G>A NP_001159716.1:n.1147-50229G>A
NM_001166245.1:c.985-50229G>A NP_001159717.1:n.985-50229G>A
NM_001166246.1:c.1321-50229G>A NP_001159718.1:n.1321-50229G>A
NM_021828.4:c.1321-50229G>A NP_068600.4:n.1321-50229G>A
XM_006717937.2:c.805-50229G>A XP_006718000.1:n.805-50229G>A
XM_011540029.1:c.1321-50229G>A XP_011538331.1:n.1321-50229G>A
XM_011540030.1:c.1159-50229G>A XP_011538332.1:n.1159-50229G>A
XM_011540031.1:c.805-50229G>A XP_011538333.1:n.805-50229G>A
XM_011540033.1:c.517-50229G>A XP_011538335.1:n.517-50229G>A
XR_945794.1:n.1394-50229G>A
XM_011540031.2:c.805-50229G>A XP_011538333.1:n.805-50229G>A
XM_017016495.1:c.1321-50229G>A XP_016871984.1:n.1321-50229G>A
XM_017016497.1:c.805-50229G>A XP_016871986.1:n.805-50229G>A
XM_017016498.1:c.517-50229G>A XP_016871987.1:n.517-50229G>A
XM_024448119.1:c.805-50229G>A XP_024303887.1:n.805-50229G>A
XM_024448120.1:c.517-50229G>A XP_024303888.1:n.517-50229G>A
XR_001747170.1:n.1398-50229G>A
NM_021828.5:c.1321-50229G>A MANE Select NP_068600.4:n.1321-50229G>A
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