Canonical Allele Identifier: CA3499071

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2828619
• ClinVar RCV Id: RCV003744288
• dbSNP Id: rs758840181
• ExAC: 5:148407255 A / AT
• gnomAD v2: 5-148407255-A-AT
• gnomAD v4: 5-149027692-A-AT
• MyVariant Identifiers: chr5:g.148407255_148407256insT (hg19) ; chr5:g.149027692_149027693insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027693dup , CM000667.2:g.149027693dup	GRCh38
NC_000005.9:g.148407256dup , CM000667.1:g.148407256dup	GRCh37
NC_000005.8:g.148387449dup	NCBI36
NG_007947.2:g.40482dup , LRG_269:g.40482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1935dup
ENST00000515425.6:c.2039dup MANE Select	ENSP00000423660.1:p.Tyr680Ter
ENST00000675793.1:c.*1323dup	ENSP00000502039.1:n.*1323dup
ENST00000676056.1:c.*1549dup	ENSP00000501827.1:n.*1549dup
ENST00000323829.9:c.*1427dup	ENSP00000313025.5:n.*1427dup
ENST00000504517.5:c.1569dup	ENSP00000421779.1:n.1569dup
ENST00000504690.5:c.2039dup	ENSP00000425627.1:p.Tyr680Ter
ENST00000510779.1:c.1089dup
ENST00000511307.5:c.*1819dup	ENSP00000421420.1:n.*1819dup
ENST00000512049.5:c.2018dup	ENSP00000421860.1:p.Tyr673Ter
ENST00000513604.5:c.*1427dup	ENSP00000423111.1:n.*1427dup
ENST00000515425.5:c.2039dup	ENSP00000423660.1:p.Tyr680Ter
NM_024577.3:c.2039dup , LRG_269t1:c.2039dup	NP_078853.2:p.Tyr680Ter
NM_024577.4:c.2039dup MANE Select	NP_078853.2:p.Tyr680Ter