Canonical Allele Identifier: CA563955047

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 843466
• ClinVar RCV Id: RCV001046103
• dbSNP Id: rs1319576439
• gnomAD v2: 5-148407490-AG-A
• gnomAD v4: 5-149027927-AG-A
• MyVariant Identifiers: chr5:g.148407491del (hg19) ; chr5:g.149027928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027929del , CM000667.2:g.149027929del	GRCh38
NC_000005.9:g.148407492del , CM000667.1:g.148407492del	GRCh37
NC_000005.8:g.148387685del	NCBI36
NG_007947.2:g.40247del , LRG_269:g.40247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1700del
ENST00000515425.6:c.1804del MANE Select	ENSP00000423660.1:p.Leu602CysfsTer?
ENST00000675793.1:c.*1088del	ENSP00000502039.1:n.*1088del
ENST00000676056.1:c.*1314del	ENSP00000501827.1:n.*1314del
ENST00000323829.9:c.*1192del	ENSP00000313025.5:n.*1192del
ENST00000504517.5:c.1334del	ENSP00000421779.1:n.1334del
ENST00000504690.5:c.1804del	ENSP00000425627.1:p.Leu602CysfsTer?
ENST00000510779.1:c.854del
ENST00000511307.5:c.*1584del	ENSP00000421420.1:n.*1584del
ENST00000512049.5:c.1783del	ENSP00000421860.1:p.Leu595CysfsTer?
ENST00000513604.5:c.*1192del	ENSP00000423111.1:n.*1192del
ENST00000515425.5:c.1804del	ENSP00000423660.1:p.Leu602CysfsTer?
NM_024577.3:c.1804del , LRG_269t1:c.1804del	NP_078853.2:p.Leu602CysfsTer?
NM_024577.4:c.1804del MANE Select	NP_078853.2:p.Leu602CysfsTer?