Canonical Allele Identifier: CA128985034

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 905265
• ClinVar RCV Id: RCV001153705 ; RCV001153706
• dbSNP Id: rs73795728
• gnomAD v2: 5-148364175-A-G
• gnomAD v3: 5-148984612-A-G
• gnomAD v4: 5-148984612-A-G
• MyVariant Identifiers: chr5:g.148364175A>G (hg19) ; chr5:g.148984612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148984612A>G , CM000667.2:g.148984612A>G	GRCh38
NC_000005.9:g.148364175A>G , CM000667.1:g.148364175A>G	GRCh37
NC_000005.8:g.148344368A>G	NCBI36
NG_007947.2:g.83563T>C , LRG_269:g.83563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*20099T>C MANE Select	ENSP00000423660.1:n.*20099T>C
ENST00000504690.5:c.*12+19114T>C	ENSP00000425627.1:n.*12+19114T>C
ENST00000510350.1:n.231+22269T>C
NM_024577.3:c.*20099T>C , LRG_269t1:c.*20099T>C	NP_078853.2:n.*20099T>C
NM_024577.4:c.*20099T>C MANE Select	NP_078853.2:n.*20099T>C