Canonical Allele Identifier: CA10619425
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351603
ClinVar RCV Id: RCV000264818 RCV000324724
dbSNP Id: rs886060099
gnomAD v2: 5-148365024-A-T
gnomAD v3: 5-148985461-A-T
gnomAD v4: 5-148985461-A-T
MyVariant Identifiers: chr5:g.148365024A>T (hg19) chr5:g.148985461A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148985461A>T , CM000667.2:g.148985461A>T GRCh38
NC_000005.9:g.148365024A>T , CM000667.1:g.148365024A>T GRCh37
NC_000005.8:g.148345217A>T NCBI36
NG_007947.2:g.82714T>A , LRG_269:g.82714T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*19250T>A MANE Select ENSP00000423660.1:n.*19250T>A
ENST00000504690.5:c.*12+18265T>A ENSP00000425627.1:n.*12+18265T>A
ENST00000510350.1:n.231+21420T>A
NM_024577.3:c.*19250T>A , LRG_269t1:c.*19250T>A NP_078853.2:n.*19250T>A
NM_024577.4:c.*19250T>A MANE Select NP_078853.2:n.*19250T>A
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