Canonical Allele Identifier: CA377489302
Gene: PAPSS2 HGNC NCBI

Linked Data

gnomAD v4: 10-87727298-A-C
MyVariant Identifiers: chr10:g.89487055A>C (hg19) chr10:g.87727298A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727298A>C , CM000672.2:g.87727298A>C GRCh38
NC_000010.10:g.89487055A>C , CM000672.1:g.89487055A>C GRCh37
NC_000010.9:g.89477035A>C NCBI36
NG_012150.1:g.72580A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.895A>C MANE Select ENSP00000406157.1:p.Met299Leu
ENST00000361175.8:c.880A>C ENSP00000354436.4:p.Met294Leu
ENST00000456849.1:c.895A>C ENSP00000406157.1:p.Met299Leu
NM_001015880.1:c.895A>C NP_001015880.1:p.Met299Leu
NM_004670.3:c.880A>C NP_004661.2:p.Met294Leu
NM_001015880.2:c.895A>C MANE Select NP_001015880.1:p.Met299Leu
NM_004670.4:c.880A>C NP_004661.2:p.Met294Leu
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