Canonical Allele Identifier: CA805462422

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 637410
• ClinVar RCV Id: RCV000789569 ; RCV001234237
• dbSNP Id: rs1174949678
• gnomAD v4: 5-149026635-CG-C
• MyVariant Identifiers: chr5:g.148406199del (hg19) ; chr5:g.149026636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026637del , CM000667.2:g.149026637del	GRCh38
NC_000005.9:g.148406200del , CM000667.1:g.148406200del	GRCh37
NC_000005.8:g.148386393del	NCBI36
NG_007947.2:g.41539del , LRG_269:g.41539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2885del
ENST00000515425.6:c.2989del MANE Select	ENSP00000423660.1:p.Arg997GlyfsTer18
ENST00000675793.1:c.*2273del	ENSP00000502039.1:n.*2273del
ENST00000676056.1:c.*2499del	ENSP00000501827.1:n.*2499del
ENST00000323829.9:c.*2377del	ENSP00000313025.5:n.*2377del
ENST00000504517.5:c.2519del	ENSP00000421779.1:n.2519del
ENST00000504690.5:c.2989del	ENSP00000425627.1:p.Arg997GlyfsTer18
ENST00000510779.1:c.2039del
ENST00000511307.5:c.*2876del	ENSP00000421420.1:n.*2876del
ENST00000512049.5:c.2968del	ENSP00000421860.1:p.Arg990GlyfsTer18
ENST00000513604.5:c.*2484del	ENSP00000423111.1:n.*2484del
ENST00000515425.5:c.2989del	ENSP00000423660.1:p.Arg997GlyfsTer18
NM_024577.3:c.2989del , LRG_269t1:c.2989del	NP_078853.2:p.Arg997GlyfsTer18
NM_024577.4:c.2989del MANE Select	NP_078853.2:p.Arg997GlyfsTer18