Canonical Allele Identifier: CA594914389

Gene: PAPSS2

Linked Data

• dbSNP Id: rs1310343152
• gnomAD v2: 10-89469101-T-TAC
• gnomAD v3: 10-87709344-T-TAC
• gnomAD v4: 10-87709344-T-TAC
• MyVariant Identifiers: chr10:g.89469101_89469102insAC (hg19) ; chr10:g.87709344_87709345insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87709346_87709347dup , CM000672.2:g.87709346_87709347dup	GRCh38
NC_000010.10:g.89469103_89469104dup , CM000672.1:g.89469103_89469104dup	GRCh37
NC_000010.9:g.89459083_89459084dup	NCBI36
NG_012150.1:g.54628_54629dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.145+33_145+34dup MANE Select	ENSP00000406157.1:n.145+33_145+34dup
ENST00000361175.8:c.145+33_145+34dup	ENSP00000354436.4:n.145+33_145+34dup
ENST00000456849.1:c.145+33_145+34dup	ENSP00000406157.1:n.145+33_145+34dup
ENST00000465996.5:n.167+33_167+34dup
ENST00000482258.1:n.188+33_188+34dup
NM_001015880.1:c.145+33_145+34dup	NP_001015880.1:n.145+33_145+34dup
NM_004670.3:c.145+33_145+34dup	NP_004661.2:n.145+33_145+34dup
NM_001015880.2:c.145+33_145+34dup MANE Select	NP_001015880.1:n.145+33_145+34dup
NM_004670.4:c.145+33_145+34dup	NP_004661.2:n.145+33_145+34dup