Canonical Allele Identifier: CA212886487
Gene: HPSE2 HGNC NCBI

Linked Data

dbSNP Id: rs17470570
gnomAD v2: 10-100580123-A-G
gnomAD v3: 10-98820366-A-G
gnomAD v4: 10-98820366-A-G
MyVariant Identifiers: chr10:g.100580123A>G (hg19) chr10:g.98820366A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98820366A>G , CM000672.2:g.98820366A>G GRCh38
NC_000010.10:g.100580123A>G , CM000672.1:g.100580123A>G GRCh37
NC_000010.9:g.100570113A>G NCBI36
NG_023416.1:g.420510T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370552.8:c.611-76310T>C MANE Select ENSP00000359583.3:n.611-76310T>C
ENST00000370546.5:c.611-76310T>C ENSP00000359577.1:n.611-76310T>C
ENST00000370549.5:c.611-98538T>C ENSP00000359580.1:n.611-98538T>C
ENST00000370552.7:c.611-76310T>C ENSP00000359583.3:n.611-76310T>C
ENST00000628193.2:c.449-98538T>C ENSP00000485916.1:n.449-98538T>C
NM_001166244.1:c.611-98538T>C NP_001159716.1:n.611-98538T>C
NM_001166245.1:c.449-98538T>C NP_001159717.1:n.449-98538T>C
NM_001166246.1:c.611-76310T>C NP_001159718.1:n.611-76310T>C
NM_021828.4:c.611-76310T>C NP_068600.4:n.611-76310T>C
XM_006717937.2:c.95-76310T>C XP_006718000.1:n.95-76310T>C
XM_011540029.1:c.611-76310T>C XP_011538331.1:n.611-76310T>C
XM_011540030.1:c.449-76310T>C XP_011538332.1:n.449-76310T>C
XM_011540031.1:c.95-76310T>C XP_011538333.1:n.95-76310T>C
XM_011540032.1:c.611-76310T>C XP_011538334.1:n.611-76310T>C
XM_011540033.1:c.-190-76314T>C XP_011538335.1:n.-190-76314T>C
XR_945794.1:n.684-76310T>C
XM_011540031.2:c.95-76310T>C XP_011538333.1:n.95-76310T>C
XM_017016495.1:c.611-76310T>C XP_016871984.1:n.611-76310T>C
XM_017016496.2:c.611-76310T>C XP_016871985.1:n.611-76310T>C
XM_017016497.1:c.95-76310T>C XP_016871986.1:n.95-76310T>C
XM_017016498.1:c.-190-76314T>C XP_016871987.1:n.-190-76314T>C
XM_024448119.1:c.95-76310T>C XP_024303887.1:n.95-76310T>C
XM_024448120.1:c.-190-76314T>C XP_024303888.1:n.-190-76314T>C
XR_001747170.1:n.684-76310T>C
NM_021828.5:c.611-76310T>C MANE Select NP_068600.4:n.611-76310T>C
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