Canonical Allele Identifier: CA199774479
Gene: SCAI HGNC NCBI
FXNP2 HGNC NCBI

Linked Data

dbSNP Id: rs28942070
MyVariant Identifiers: chr9:g.127730689A>C (hg19) chr9:g.124968410A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968410A>C , CM000671.2:g.124968410A>C GRCh38
NC_000009.11:g.127730689A>C , CM000671.1:g.127730689A>C GRCh37
NC_000009.10:g.126770510A>C NCBI36
NG_016620.1:g.180150T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000336505.11:c.1674+2960T>G (SCAI) MANE Select ENSP00000336756.6:n.1674+2960T>G
ENST00000336505.10:c.1674+2960T>G (SCAI) ENSP00000336756.5:n.1674+2960T>G
ENST00000373549.8:c.1743+2960T>G (SCAI) ENSP00000362650.4:n.1743+2960T>G
ENST00000411625.2:n.431T>G (FXNP2)
ENST00000467917.5:c.606+2960T>G (SCAI)
ENST00000477186.5:c.*119+2960T>G (SCAI) ENSP00000419576.1:n.*119+2960T>G
NM_001144877.2:c.1674+2960T>G (SCAI) NP_001138349.1:n.1674+2960T>G
NM_173690.4:c.1743+2960T>G (SCAI) NP_775961.2:n.1743+2960T>G
XR_929767.1:n.1945+2960T>G (SCAI)
NM_001144877.3:c.1674+2960T>G (SCAI) MANE Select NP_001138349.1:n.1674+2960T>G
NM_173690.5:c.1743+2960T>G (SCAI) NP_775961.2:n.1743+2960T>G
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