Canonical Allele Identifier: CA10620652
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351713
ClinVar RCV Id: RCV000330838 RCV000385391
dbSNP Id: rs13355933
gnomAD v2: 5-148374154-G-T
gnomAD v3: 5-148994591-G-T
gnomAD v4: 5-148994591-G-T
MyVariant Identifiers: chr5:g.148374154G>T (hg19) chr5:g.148994591G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994591G>T , CM000667.2:g.148994591G>T GRCh38
NC_000005.9:g.148374154G>T , CM000667.1:g.148374154G>T GRCh37
NC_000005.8:g.148354347G>T NCBI36
NG_007947.2:g.73584C>A , LRG_269:g.73584C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10120C>A MANE Select ENSP00000423660.1:n.*10120C>A
ENST00000504690.5:c.*12+9135C>A ENSP00000425627.1:n.*12+9135C>A
ENST00000510350.1:n.231+12290C>A
NM_024577.3:c.*10120C>A , LRG_269t1:c.*10120C>A NP_078853.2:n.*10120C>A
NM_024577.4:c.*10120C>A MANE Select NP_078853.2:n.*10120C>A
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