Canonical Allele Identifier: CA10620685

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351804
• ClinVar RCV Id: RCV000279647 ; RCV000316081
• dbSNP Id: rs537285537
• gnomAD v2: 5-148378585-T-G
• gnomAD v3: 5-148999022-T-G
• gnomAD v4: 5-148999022-T-G
• MyVariant Identifiers: chr5:g.148378585T>G (hg19) ; chr5:g.148999022T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148999022T>G , CM000667.2:g.148999022T>G	GRCh38
NC_000005.9:g.148378585T>G , CM000667.1:g.148378585T>G	GRCh37
NC_000005.8:g.148358778T>G	NCBI36
NG_007947.2:g.69153A>C , LRG_269:g.69153A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*5689A>C MANE Select	ENSP00000423660.1:n.*5689A>C
ENST00000504690.5:c.*12+4704A>C	ENSP00000425627.1:n.*12+4704A>C
ENST00000510350.1:n.231+7859A>C
NM_024577.3:c.*5689A>C , LRG_269t1:c.*5689A>C	NP_078853.2:n.*5689A>C
NM_024577.4:c.*5689A>C MANE Select	NP_078853.2:n.*5689A>C