Canonical Allele Identifier: CA199774432

Gene: SCAI FXNP2

Linked Data

• dbSNP Id: rs3824505
• gnomAD v2: 9-127730610-T-C
• gnomAD v3: 9-124968331-T-C
• gnomAD v4: 9-124968331-T-C
• COSMIC: COSN5274949
• MyVariant Identifiers: chr9:g.127730610T>C (hg19) ; chr9:g.124968331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124968331T>C , CM000671.2:g.124968331T>C	GRCh38
NC_000009.11:g.127730610T>C , CM000671.1:g.127730610T>C	GRCh37
NC_000009.10:g.126770431T>C	NCBI36
NG_016620.1:g.180229A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336505.11:c.1674+3039A>G (SCAI) MANE Select	ENSP00000336756.6:n.1674+3039A>G
ENST00000336505.10:c.1674+3039A>G (SCAI)	ENSP00000336756.5:n.1674+3039A>G
ENST00000373549.8:c.1743+3039A>G (SCAI)	ENSP00000362650.4:n.1743+3039A>G
ENST00000411625.2:n.510A>G (FXNP2)
ENST00000467917.5:c.606+3039A>G (SCAI)
ENST00000477186.5:c.*119+3039A>G (SCAI)	ENSP00000419576.1:n.*119+3039A>G
NM_001144877.2:c.1674+3039A>G (SCAI)	NP_001138349.1:n.1674+3039A>G
NM_173690.4:c.1743+3039A>G (SCAI)	NP_775961.2:n.1743+3039A>G
XR_929767.1:n.1945+3039A>G (SCAI)
NM_001144877.3:c.1674+3039A>G (SCAI) MANE Select	NP_001138349.1:n.1674+3039A>G
NM_173690.5:c.1743+3039A>G (SCAI)	NP_775961.2:n.1743+3039A>G