Canonical Allele Identifier: CA10620679
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351790
ClinVar RCV Id: RCV000300137 RCV000359615
dbSNP Id: rs114817736
gnomAD v3: 5-148998319-G-T
gnomAD v4: 5-148998319-G-T
MyVariant Identifiers: chr5:g.148377882G>T (hg19) chr5:g.148998319G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148998319G>T , CM000667.2:g.148998319G>T GRCh38
NC_000005.9:g.148377882G>T , CM000667.1:g.148377882G>T GRCh37
NC_000005.8:g.148358075G>T NCBI36
NG_007947.2:g.69856C>A , LRG_269:g.69856C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*6392C>A MANE Select ENSP00000423660.1:n.*6392C>A
ENST00000504690.5:c.*12+5407C>A ENSP00000425627.1:n.*12+5407C>A
ENST00000510350.1:n.231+8562C>A
NM_024577.3:c.*6392C>A , LRG_269t1:c.*6392C>A NP_078853.2:n.*6392C>A
NM_024577.4:c.*6392C>A MANE Select NP_078853.2:n.*6392C>A
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