Canonical Allele Identifier: CA16621884
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425482
ClinVar RCV Id: RCV000488082
dbSNP Id: rs1064797361
gnomAD v3: X-21845166-G-C
gnomAD v4: X-21845166-G-C
MyVariant Identifiers: chrX:g.21863284G>C (hg19) chrX:g.21845166G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845166G>C , CM000685.2:g.21845166G>C GRCh38
NC_000023.10:g.21863284G>C , CM000685.1:g.21863284G>C GRCh37
NC_000023.9:g.21773205G>C NCBI36
NG_012797.1:g.10629G>C
NG_012797.2:g.10629G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379484.10:c.225-5G>C MANE Select ENSP00000368798.5:n.225-5G>C
ENST00000365779.2:c.225-5G>C ENSP00000368796.1:n.225-5G>C
ENST00000379484.9:c.225-5G>C ENSP00000368798.5:n.225-5G>C
ENST00000465888.1:n.324-5G>C
NM_015884.3:c.225-5G>C NP_056968.1:n.225-5G>C
NM_015884.4:c.225-5G>C MANE Select NP_056968.1:n.225-5G>C
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