Canonical Allele Identifier: CA447394625

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2077415
• ClinVar RCV Id: RCV002976483
• gnomAD v4: 5-149006953-C-T
• MyVariant Identifiers: chr5:g.148386516C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006953C>T , CM000667.2:g.149006953C>T	GRCh38
NC_000005.9:g.148386516C>T , CM000667.1:g.148386516C>T	GRCh37
NC_000005.8:g.148366709C>T	NCBI36
NG_007947.2:g.61222G>A , LRG_269:g.61222G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4456G>A
ENST00000515425.6:c.3603G>A MANE Select	ENSP00000423660.1:p.Gln1201=
ENST00000675793.1:c.*4660G>A	ENSP00000502039.1:n.*4660G>A
ENST00000323829.9:c.*2991G>A	ENSP00000313025.5:n.*2991G>A
ENST00000502274.1:c.189G>A	ENSP00000421092.1:p.Gln63=
ENST00000504517.5:c.3125G>A	ENSP00000421779.1:n.3125G>A
ENST00000504690.5:c.3603G>A	ENSP00000425627.1:p.Gln1201=
ENST00000510350.1:n.159G>A
ENST00000510779.1:c.2653G>A
ENST00000512049.5:c.3582G>A	ENSP00000421860.1:p.Gln1194=
ENST00000515229.5:n.265G>A
ENST00000515425.5:c.3603G>A	ENSP00000423660.1:p.Gln1201=
NM_024577.3:c.3603G>A , LRG_269t1:c.3603G>A	NP_078853.2:p.Gln1201=
NM_024577.4:c.3603G>A MANE Select	NP_078853.2:p.Gln1201=