Canonical Allele Identifier: CA2675888054

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027923-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027925del , CM000667.2:g.149027925del	GRCh38
NC_000005.9:g.148407488del , CM000667.1:g.148407488del	GRCh37
NC_000005.8:g.148387681del	NCBI36
NG_007947.2:g.40251del , LRG_269:g.40251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1704del
ENST00000515425.6:c.1808del MANE Select	ENSP00000423660.1:p.Pro603LeufsTer?
ENST00000675793.1:c.*1092del	ENSP00000502039.1:n.*1092del
ENST00000676056.1:c.*1318del	ENSP00000501827.1:n.*1318del
ENST00000323829.9:c.*1196del	ENSP00000313025.5:n.*1196del
ENST00000504517.5:c.1338del	ENSP00000421779.1:n.1338del
ENST00000504690.5:c.1808del	ENSP00000425627.1:p.Pro603LeufsTer?
ENST00000510779.1:c.858del
ENST00000511307.5:c.*1588del	ENSP00000421420.1:n.*1588del
ENST00000512049.5:c.1787del	ENSP00000421860.1:p.Pro596LeufsTer?
ENST00000513604.5:c.*1196del	ENSP00000423111.1:n.*1196del
ENST00000515425.5:c.1808del	ENSP00000423660.1:p.Pro603LeufsTer?
NM_024577.3:c.1808del , LRG_269t1:c.1808del	NP_078853.2:p.Pro603LeufsTer?
NM_024577.4:c.1808del MANE Select	NP_078853.2:p.Pro603LeufsTer?