Canonical Allele Identifier: CA3174081355
Community Standard Title: NM_001015880.2(PAPSS2):c.337G= (p.Ala113=)
Gene: PAPSS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87713266G= , CM000672.2:g.87713266G= GRCh38
NC_000010.10:g.89473023G= , CM000672.1:g.89473023G= GRCh37
NC_000010.9:g.89463003G= NCBI36
NG_012150.1:g.58548G=

Transcript Alleles

HGVS Amino-acid Change
NM_001015880.2:c.337G= MANE Select NP_001015880.1:p.Ala113=
ENST00000456849.2:c.337G= MANE Select ENSP00000406157.1:p.Ala113=
NM_001015880.1:c.337G= NP_001015880.1:p.Ala113=
NM_004670.3:c.337G= NP_004661.2:p.Ala113=
NM_004670.4:c.337G= NP_004661.2:p.Ala113=
ENST00000361175.8:c.337G= ENSP00000354436.4:p.Ala113=
ENST00000456849.1:c.337G= ENSP00000406157.1:p.Ala113=
ENST00000482258.1:n.380G=