Canonical Allele Identifier: CA212808964

Gene: HPSE2

Linked Data

• dbSNP Id: rs916994869
• gnomAD v2: 10-100300199-G-C
• gnomAD v3: 10-98540442-G-C
• gnomAD v4: 10-98540442-G-C
• MyVariant Identifiers: chr10:g.100300199G>C (hg19) ; chr10:g.98540442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98540442G>C , CM000672.2:g.98540442G>C	GRCh38
NC_000010.10:g.100300199G>C , CM000672.1:g.100300199G>C	GRCh37
NC_000010.9:g.100290189G>C	NCBI36
NG_023416.1:g.700434C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370552.8:c.1321-50246C>G MANE Select	ENSP00000359583.3:n.1321-50246C>G
ENST00000370546.5:c.1321-50246C>G	ENSP00000359577.1:n.1321-50246C>G
ENST00000370549.5:c.1147-50246C>G	ENSP00000359580.1:n.1147-50246C>G
ENST00000370552.7:c.1321-50246C>G	ENSP00000359583.3:n.1321-50246C>G
ENST00000404542.5:c.712-50246C>G	ENSP00000384384.2:n.712-50246C>G
ENST00000628193.2:c.985-50246C>G	ENSP00000485916.1:n.985-50246C>G
NM_001166244.1:c.1147-50246C>G	NP_001159716.1:n.1147-50246C>G
NM_001166245.1:c.985-50246C>G	NP_001159717.1:n.985-50246C>G
NM_001166246.1:c.1321-50246C>G	NP_001159718.1:n.1321-50246C>G
NM_021828.4:c.1321-50246C>G	NP_068600.4:n.1321-50246C>G
XM_006717937.2:c.805-50246C>G	XP_006718000.1:n.805-50246C>G
XM_011540029.1:c.1321-50246C>G	XP_011538331.1:n.1321-50246C>G
XM_011540030.1:c.1159-50246C>G	XP_011538332.1:n.1159-50246C>G
XM_011540031.1:c.805-50246C>G	XP_011538333.1:n.805-50246C>G
XM_011540033.1:c.517-50246C>G	XP_011538335.1:n.517-50246C>G
XR_945794.1:n.1394-50246C>G
XM_011540031.2:c.805-50246C>G	XP_011538333.1:n.805-50246C>G
XM_017016495.1:c.1321-50246C>G	XP_016871984.1:n.1321-50246C>G
XM_017016497.1:c.805-50246C>G	XP_016871986.1:n.805-50246C>G
XM_017016498.1:c.517-50246C>G	XP_016871987.1:n.517-50246C>G
XM_024448119.1:c.805-50246C>G	XP_024303887.1:n.805-50246C>G
XM_024448120.1:c.517-50246C>G	XP_024303888.1:n.517-50246C>G
XR_001747170.1:n.1398-50246C>G
NM_021828.5:c.1321-50246C>G MANE Select	NP_068600.4:n.1321-50246C>G