Canonical Allele Identifier: CA5589590

Gene: PAPSS2

Linked Data

• dbSNP Id: rs750532009
• ExAC: 10:89487002 T / C
• gnomAD v2: 10-89487002-T-C
• gnomAD v3: 10-87727245-T-C
• gnomAD v4: 10-87727245-T-C
• MyVariant Identifiers: chr10:g.89487002T>C (hg19) ; chr10:g.87727245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727245T>C , CM000672.2:g.87727245T>C	GRCh38
NC_000010.10:g.89487002T>C , CM000672.1:g.89487002T>C	GRCh37
NC_000010.9:g.89476982T>C	NCBI36
NG_012150.1:g.72527T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.881-39T>C MANE Select	ENSP00000406157.1:n.881-39T>C
ENST00000361175.8:c.866-39T>C	ENSP00000354436.4:n.866-39T>C
ENST00000456849.1:c.881-39T>C	ENSP00000406157.1:n.881-39T>C
NM_001015880.1:c.881-39T>C	NP_001015880.1:n.881-39T>C
NM_004670.3:c.866-39T>C	NP_004661.2:n.866-39T>C
NM_001015880.2:c.881-39T>C MANE Select	NP_001015880.1:n.881-39T>C
NM_004670.4:c.866-39T>C	NP_004661.2:n.866-39T>C