Canonical Allele Identifier: CA1082780286

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753736352
• gnomAD v3: 5-149008902-CA-C
• gnomAD v4: 5-149008902-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008903del , CM000667.2:g.149008903del	GRCh38
NC_000005.9:g.148388466del , CM000667.1:g.148388466del	GRCh37
NC_000005.8:g.148368659del	NCBI36
NG_007947.2:g.59272del , LRG_269:g.59272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3322del
ENST00000515425.6:c.3426del MANE Select	ENSP00000423660.1:p.Tyr1142Ter
ENST00000675793.1:c.*2710del	ENSP00000502039.1:n.*2710del
ENST00000323829.9:c.*2814del	ENSP00000313025.5:n.*2814del
ENST00000504517.5:c.2956del	ENSP00000421779.1:n.2956del
ENST00000504690.5:c.3426del	ENSP00000425627.1:p.Tyr1142Ter
ENST00000510779.1:c.2476del
ENST00000512049.5:c.3405del	ENSP00000421860.1:p.Tyr1135Ter
ENST00000515229.5:n.88del
ENST00000515425.5:c.3426del	ENSP00000423660.1:p.Tyr1142Ter
NM_024577.3:c.3426del , LRG_269t1:c.3426del	NP_078853.2:p.Tyr1142Ter
NM_024577.4:c.3426del MANE Select	NP_078853.2:p.Tyr1142Ter