Canonical Allele Identifier: CA10623340

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351897
• ClinVar RCV Id: RCV000292382 ; RCV000386690 ; RCV002450926
• dbSNP Id: rs886060195
• gnomAD v4: 5-149006956-C-T
• MyVariant Identifiers: chr5:g.148386519C>T (hg19) ; chr5:g.149006956C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006956C>T , CM000667.2:g.149006956C>T	GRCh38
NC_000005.9:g.148386519C>T , CM000667.1:g.148386519C>T	GRCh37
NC_000005.8:g.148366712C>T	NCBI36
NG_007947.2:g.61219G>A , LRG_269:g.61219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4453G>A
ENST00000515425.6:c.3600G>A MANE Select	ENSP00000423660.1:p.Leu1200=
ENST00000675793.1:c.*4657G>A	ENSP00000502039.1:n.*4657G>A
ENST00000323829.9:c.*2988G>A	ENSP00000313025.5:n.*2988G>A
ENST00000502274.1:c.186G>A	ENSP00000421092.1:p.Leu62=
ENST00000504517.5:c.3122G>A	ENSP00000421779.1:n.3122G>A
ENST00000504690.5:c.3600G>A	ENSP00000425627.1:p.Leu1200=
ENST00000510350.1:n.156G>A
ENST00000510779.1:c.2650G>A
ENST00000512049.5:c.3579G>A	ENSP00000421860.1:p.Leu1193=
ENST00000515229.5:n.262G>A
ENST00000515425.5:c.3600G>A	ENSP00000423660.1:p.Leu1200=
NM_024577.3:c.3600G>A , LRG_269t1:c.3600G>A	NP_078853.2:p.Leu1200=
NM_024577.4:c.3600G>A MANE Select	NP_078853.2:p.Leu1200=