Canonical Allele Identifier: CA5589598

Gene: PAPSS2

Linked Data

• ClinVar Variation Id: 1585189
• ClinVar RCV Id: RCV002095219 ; RCV003958645
• dbSNP Id: rs772537897
• ExAC: 10:89487031 C / T
• gnomAD v2: 10-89487031-C-T
• gnomAD v3: 10-87727274-C-T
• gnomAD v4: 10-87727274-C-T
• MyVariant Identifiers: chr10:g.89487031C>T (hg19) ; chr10:g.87727274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727274C>T , CM000672.2:g.87727274C>T	GRCh38
NC_000010.10:g.89487031C>T , CM000672.1:g.89487031C>T	GRCh37
NC_000010.9:g.89477011C>T	NCBI36
NG_012150.1:g.72556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.881-10C>T MANE Select	ENSP00000406157.1:n.881-10C>T
ENST00000361175.8:c.866-10C>T	ENSP00000354436.4:n.866-10C>T
ENST00000456849.1:c.881-10C>T	ENSP00000406157.1:n.881-10C>T
NM_001015880.1:c.881-10C>T	NP_001015880.1:n.881-10C>T
NM_004670.3:c.866-10C>T	NP_004661.2:n.866-10C>T
NM_001015880.2:c.881-10C>T MANE Select	NP_001015880.1:n.881-10C>T
NM_004670.4:c.866-10C>T	NP_004661.2:n.866-10C>T