Canonical Allele Identifier: CA212782116

Gene: HPSE2

Linked Data

• dbSNP Id: rs10786455
• gnomAD v2: 10-100454144-G-A
• gnomAD v3: 10-98694387-G-A
• gnomAD v4: 10-98694387-G-A
• MyVariant Identifiers: chr10:g.100454144G>A (hg19) ; chr10:g.98694387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98694387G>A , CM000672.2:g.98694387G>A	GRCh38
NC_000010.10:g.100454144G>A , CM000672.1:g.100454144G>A	GRCh37
NC_000010.9:g.100444134G>A	NCBI36
NG_023416.1:g.546489C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370552.8:c.957-440C>T MANE Select	ENSP00000359583.3:n.957-440C>T
ENST00000370546.5:c.957-440C>T	ENSP00000359577.1:n.957-440C>T
ENST00000370549.5:c.783-440C>T	ENSP00000359580.1:n.783-440C>T
ENST00000370552.7:c.957-440C>T	ENSP00000359583.3:n.957-440C>T
ENST00000404542.5:c.348-440C>T	ENSP00000384384.2:n.348-440C>T
ENST00000628193.2:c.621-440C>T	ENSP00000485916.1:n.621-440C>T
NM_001166244.1:c.783-440C>T	NP_001159716.1:n.783-440C>T
NM_001166245.1:c.621-440C>T	NP_001159717.1:n.621-440C>T
NM_001166246.1:c.957-440C>T	NP_001159718.1:n.957-440C>T
NM_021828.4:c.957-440C>T	NP_068600.4:n.957-440C>T
XM_006717937.2:c.441-440C>T	XP_006718000.1:n.441-440C>T
XM_011540029.1:c.957-440C>T	XP_011538331.1:n.957-440C>T
XM_011540030.1:c.795-440C>T	XP_011538332.1:n.795-440C>T
XM_011540031.1:c.441-440C>T	XP_011538333.1:n.441-440C>T
XM_011540032.1:c.957-440C>T	XP_011538334.1:n.957-440C>T
XM_011540033.1:c.153-440C>T	XP_011538335.1:n.153-440C>T
XR_945794.1:n.1030-440C>T
XM_011540031.2:c.441-440C>T	XP_011538333.1:n.441-440C>T
XM_017016495.1:c.957-440C>T	XP_016871984.1:n.957-440C>T
XM_017016496.2:c.957-440C>T	XP_016871985.1:n.957-440C>T
XM_017016497.1:c.441-440C>T	XP_016871986.1:n.441-440C>T
XM_017016498.1:c.153-440C>T	XP_016871987.1:n.153-440C>T
XM_024448119.1:c.441-440C>T	XP_024303887.1:n.441-440C>T
XM_024448120.1:c.153-440C>T	XP_024303888.1:n.153-440C>T
XR_001747170.1:n.1030-440C>T
NM_021828.5:c.957-440C>T MANE Select	NP_068600.4:n.957-440C>T