Canonical Allele Identifier: CA10619384

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351576
• ClinVar RCV Id: RCV000295687 ; RCV000348244
• dbSNP Id: rs145964634
• gnomAD v2: 5-148362616-T-C
• gnomAD v3: 5-148983053-T-C
• gnomAD v4: 5-148983053-T-C
• MyVariant Identifiers: chr5:g.148362616T>C (hg19) ; chr5:g.148983053T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148983053T>C , CM000667.2:g.148983053T>C	GRCh38
NC_000005.9:g.148362616T>C , CM000667.1:g.148362616T>C	GRCh37
NC_000005.8:g.148342809T>C	NCBI36
NG_007947.2:g.85122A>G , LRG_269:g.85122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*21658A>G MANE Select	ENSP00000423660.1:n.*21658A>G
ENST00000504690.5:c.*12+20673A>G	ENSP00000425627.1:n.*12+20673A>G
ENST00000510350.1:n.231+23828A>G
NM_024577.3:c.*21658A>G , LRG_269t1:c.*21658A>G	NP_078853.2:n.*21658A>G
NM_024577.4:c.*21658A>G MANE Select	NP_078853.2:n.*21658A>G