Canonical Allele Identifier: CA10619458

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351670
• ClinVar RCV Id: RCV000309984 ; RCV000357774
• dbSNP Id: rs186009343
• gnomAD v2: 5-148370809-G-T
• gnomAD v3: 5-148991246-G-T
• gnomAD v4: 5-148991246-G-T
• MyVariant Identifiers: chr5:g.148370809G>T (hg19) ; chr5:g.148991246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148991246G>T , CM000667.2:g.148991246G>T	GRCh38
NC_000005.9:g.148370809G>T , CM000667.1:g.148370809G>T	GRCh37
NC_000005.8:g.148351002G>T	NCBI36
NG_007947.2:g.76929C>A , LRG_269:g.76929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*13465C>A MANE Select	ENSP00000423660.1:n.*13465C>A
ENST00000504690.5:c.*12+12480C>A	ENSP00000425627.1:n.*12+12480C>A
ENST00000510350.1:n.231+15635C>A
NM_024577.3:c.*13465C>A , LRG_269t1:c.*13465C>A	NP_078853.2:n.*13465C>A
NM_024577.4:c.*13465C>A MANE Select	NP_078853.2:n.*13465C>A