Canonical Allele Identifier: CA658657553

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 487808
• ClinVar RCV Id: RCV000577857
• dbSNP Id: rs1554121513
• MyVariant Identifiers: chr5:g.148406172del (hg19) ; chr5:g.149026609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026609del , CM000667.2:g.149026609del	GRCh38
NC_000005.9:g.148406172del , CM000667.1:g.148406172del	GRCh37
NC_000005.8:g.148386365del	NCBI36
NG_007947.2:g.41566del , LRG_269:g.41566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2912del
ENST00000515425.6:c.3016del MANE Select	ENSP00000423660.1:p.Ser1006ProfsTer9
ENST00000675793.1:c.*2300del	ENSP00000502039.1:n.*2300del
ENST00000676056.1:c.*2526del	ENSP00000501827.1:n.*2526del
ENST00000323829.9:c.*2404del	ENSP00000313025.5:n.*2404del
ENST00000504517.5:c.2546del	ENSP00000421779.1:n.2546del
ENST00000504690.5:c.3016del	ENSP00000425627.1:p.Ser1006ProfsTer9
ENST00000510779.1:c.2066del
ENST00000511307.5:c.*2903del	ENSP00000421420.1:n.*2903del
ENST00000512049.5:c.2995del	ENSP00000421860.1:p.Ser999ProfsTer9
ENST00000513604.5:c.*2511del	ENSP00000423111.1:n.*2511del
ENST00000515425.5:c.3016del	ENSP00000423660.1:p.Ser1006ProfsTer9
NM_024577.3:c.3016del , LRG_269t1:c.3016del	NP_078853.2:p.Ser1006ProfsTer9
NM_024577.4:c.3016del MANE Select	NP_078853.2:p.Ser1006ProfsTer9