Canonical Allele Identifier: CA16618137
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421261
ClinVar RCV Id: RCV000487124 RCV003401540
dbSNP Id: rs1064795016
gnomAD v4: 5-149040658-GATA-G
MyVariant Identifiers: chr5:g.148420222_148420224del (hg19) chr5:g.149040659_149040661del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149040661_149040663del , CM000667.2:g.149040661_149040663del GRCh38
NC_000005.9:g.148420224_148420226del , CM000667.1:g.148420224_148420226del GRCh37
NC_000005.8:g.148400417_148400419del NCBI36
NG_007947.2:g.27514_27516del , LRG_269:g.27514_27516del

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.638_640del
ENST00000515425.6:c.748_750del MANE Select ENSP00000423660.1:p.Tyr250del
ENST00000674655.1:c.10_12del ENSP00000502840.1:p.Tyr4del
ENST00000674983.1:c.*6_*8del ENSP00000502387.1:n.*6_*8del
ENST00000675793.1:c.748_750del ENSP00000502039.1:p.Tyr250del
ENST00000676056.1:c.*6_*8del ENSP00000501827.1:n.*6_*8del
ENST00000676367.1:n.306_308del
ENST00000323829.9:c.*6_*8del ENSP00000313025.5:n.*6_*8del
ENST00000503071.1:n.215_217del
ENST00000504517.5:c.148_150del ENSP00000421779.1:p.Tyr50del
ENST00000504690.5:c.748_750del ENSP00000425627.1:p.Tyr250del
ENST00000511307.5:c.*528_*530del ENSP00000421420.1:n.*528_*530del
ENST00000512049.5:c.727_729del ENSP00000421860.1:p.Tyr243del
ENST00000513604.5:c.*6_*8del ENSP00000423111.1:n.*6_*8del
ENST00000515425.5:c.748_750del ENSP00000423660.1:p.Tyr250del
NM_024577.3:c.748_750del , LRG_269t1:c.748_750del NP_078853.2:p.Tyr250del
NM_024577.4:c.748_750del MANE Select NP_078853.2:p.Tyr250del
Search 100 bp 5'
Search 100 bp 3'