Canonical Allele Identifier: CA377489436

Gene: PAPSS2

Linked Data

• gnomAD v4: 10-87727362-A-T
• MyVariant Identifiers: chr10:g.89487119A>T (hg19) ; chr10:g.87727362A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87727362A>T , CM000672.2:g.87727362A>T	GRCh38
NC_000010.10:g.89487119A>T , CM000672.1:g.89487119A>T	GRCh37
NC_000010.9:g.89477099A>T	NCBI36
NG_012150.1:g.72644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456849.2:c.959A>T MANE Select	ENSP00000406157.1:p.Lys320Met
ENST00000361175.8:c.944A>T	ENSP00000354436.4:p.Lys315Met
ENST00000456849.1:c.959A>T	ENSP00000406157.1:p.Lys320Met
NM_001015880.1:c.959A>T	NP_001015880.1:p.Lys320Met
NM_004670.3:c.944A>T	NP_004661.2:p.Lys315Met
NM_001015880.2:c.959A>T MANE Select	NP_001015880.1:p.Lys320Met
NM_004670.4:c.944A>T	NP_004661.2:p.Lys315Met