Canonical Allele Identifier: CA128989031

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 907495
• ClinVar RCV Id: RCV001157379 ; RCV001157380
• dbSNP Id: rs943889013
• gnomAD v3: 5-148994600-A-G
• gnomAD v4: 5-148994600-A-G
• MyVariant Identifiers: chr5:g.148374163A>G (hg19) ; chr5:g.148994600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148994600A>G , CM000667.2:g.148994600A>G	GRCh38
NC_000005.9:g.148374163A>G , CM000667.1:g.148374163A>G	GRCh37
NC_000005.8:g.148354356A>G	NCBI36
NG_007947.2:g.73575T>C , LRG_269:g.73575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*10111T>C MANE Select	ENSP00000423660.1:n.*10111T>C
ENST00000504690.5:c.*12+9126T>C	ENSP00000425627.1:n.*12+9126T>C
ENST00000510350.1:n.231+12281T>C
NM_024577.3:c.*10111T>C , LRG_269t1:c.*10111T>C	NP_078853.2:n.*10111T>C
NM_024577.4:c.*10111T>C MANE Select	NP_078853.2:n.*10111T>C