Canonical Allele Identifier: CA3498635

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 287406
• ClinVar RCV Id: RCV000365032 ; RCV000538258 ; RCV002365320
• dbSNP Id: rs147931490
• ExAC: 5:148384384 T / C
• gnomAD v2: 5-148384384-T-C
• gnomAD v3: 5-149004821-T-C
• gnomAD v4: 5-149004821-T-C
• MyVariant Identifiers: chr5:g.148384384T>C (hg19) ; chr5:g.149004821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149004821T>C , CM000667.2:g.149004821T>C	GRCh38
NC_000005.9:g.148384384T>C , CM000667.1:g.148384384T>C	GRCh37
NC_000005.8:g.148364577T>C	NCBI36
NG_007947.2:g.63354A>G , LRG_269:g.63354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4610A>G
ENST00000515425.6:c.3757A>G MANE Select	ENSP00000423660.1:p.Ile1253Val
ENST00000643113.1:c.151-979A>G
ENST00000675793.1:c.*4814A>G	ENSP00000502039.1:n.*4814A>G
ENST00000323829.9:c.*3145A>G	ENSP00000313025.5:n.*3145A>G
ENST00000502274.1:c.343A>G	ENSP00000421092.1:p.Ile115Val
ENST00000504517.5:c.3279A>G	ENSP00000421779.1:n.3279A>G
ENST00000504690.5:c.3676-979A>G	ENSP00000425627.1:n.3676-979A>G
ENST00000510350.1:n.231+2060A>G
ENST00000510779.1:c.2807A>G
ENST00000512049.5:c.3736A>G	ENSP00000421860.1:p.Ile1246Val
ENST00000515229.5:n.338-979A>G
ENST00000515425.5:c.3757A>G	ENSP00000423660.1:p.Ile1253Val
NM_024577.3:c.3757A>G , LRG_269t1:c.3757A>G	NP_078853.2:p.Ile1253Val
NM_024577.4:c.3757A>G MANE Select	NP_078853.2:p.Ile1253Val