Canonical Allele Identifier: CA467124445

Gene: SCAI FXNP2

Linked Data

• MyVariant Identifiers: chr9:g.127730603A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124968324A>G , CM000671.2:g.124968324A>G	GRCh38
NC_000009.11:g.127730603A>G , CM000671.1:g.127730603A>G	GRCh37
NC_000009.10:g.126770424A>G	NCBI36
NG_016620.1:g.180236T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336505.11:c.1674+3046T>C (SCAI) MANE Select	ENSP00000336756.6:n.1674+3046T>C
ENST00000336505.10:c.1674+3046T>C (SCAI)	ENSP00000336756.5:n.1674+3046T>C
ENST00000373549.8:c.1743+3046T>C (SCAI)	ENSP00000362650.4:n.1743+3046T>C
ENST00000411625.2:n.517T>C (FXNP2)
ENST00000467917.5:c.606+3046T>C (SCAI)
ENST00000477186.5:c.*119+3046T>C (SCAI)	ENSP00000419576.1:n.*119+3046T>C
NM_001144877.2:c.1674+3046T>C (SCAI)	NP_001138349.1:n.1674+3046T>C
NM_173690.4:c.1743+3046T>C (SCAI)	NP_775961.2:n.1743+3046T>C
XR_929767.1:n.1945+3046T>C (SCAI)
NM_001144877.3:c.1674+3046T>C (SCAI) MANE Select	NP_001138349.1:n.1674+3046T>C
NM_173690.5:c.1743+3046T>C (SCAI)	NP_775961.2:n.1743+3046T>C