Canonical Allele Identifier: CA412561688
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863288G>C (hg19) chrX:g.21845170G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845170G>C , CM000685.2:g.21845170G>C GRCh38
NC_000023.10:g.21863288G>C , CM000685.1:g.21863288G>C GRCh37
NC_000023.9:g.21773209G>C NCBI36
NG_012797.1:g.10633G>C
NG_012797.2:g.10633G>C

Transcript Alleles

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