Canonical Allele Identifier: CA805483597

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 906494
• ClinVar RCV Id: RCV001155692 ; RCV001155693
• dbSNP Id: rs1246060970
• gnomAD v3: 5-148994481-T-G
• gnomAD v4: 5-148994481-T-G
• MyVariant Identifiers: chr5:g.148374044T>G (hg19) ; chr5:g.148994481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148994481T>G , CM000667.2:g.148994481T>G	GRCh38
NC_000005.9:g.148374044T>G , CM000667.1:g.148374044T>G	GRCh37
NC_000005.8:g.148354237T>G	NCBI36
NG_007947.2:g.73694A>C , LRG_269:g.73694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*10230A>C MANE Select	ENSP00000423660.1:n.*10230A>C
ENST00000504690.5:c.*12+9245A>C	ENSP00000425627.1:n.*12+9245A>C
ENST00000510350.1:n.231+12400A>C
NM_024577.3:c.*10230A>C , LRG_269t1:c.*10230A>C	NP_078853.2:n.*10230A>C
NM_024577.4:c.*10230A>C MANE Select	NP_078853.2:n.*10230A>C