Canonical Allele Identifier: CA3498781
Gene: SH3TC2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149010284C>T
GRCh37 chr5:g.148389847C>T
Revel Score:
ENST00000538184 0.195
ENST00000515425 (MANE Select) 0.195
ENST00000512049 0.195
gnomAD v2:
5:148389847 C / T
gnomAD v3:
5:149010284 C / T
gnomAD v4:
chr5-149010284-C-T
Joint Max Group AF 0.00164951 (EAS)
Genomes Max Group AF 0.00015673 (EAS)
Exomes Max Group AF 0.00179678 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149010284C>T , CM000667.2:g.149010284C>T GRCh38
NC_000005.9:g.148389847C>T , CM000667.1:g.148389847C>T GRCh37
NC_000005.8:g.148370040C>T NCBI36
NG_007947.2:g.57891G>A , LRG_269:g.57891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3209G>A
ENST00000515425.6:c.3313G>A MANE Select ENSP00000423660.1:p.Val1105Met
ENST00000675793.1:c.*2597G>A ENSP00000502039.1:n.*2597G>A
ENST00000323829.9:c.*2701G>A ENSP00000313025.5:n.*2701G>A
ENST00000504517.5:c.2843G>A ENSP00000421779.1:n.2843G>A
ENST00000504690.5:c.3313G>A ENSP00000425627.1:p.Val1105Met
ENST00000510779.1:c.2363G>A
ENST00000512049.5:c.3292G>A ENSP00000421860.1:p.Val1098Met
ENST00000515425.5:c.3313G>A ENSP00000423660.1:p.Val1105Met
NM_024577.3:c.3313G>A , LRG_269t1:c.3313G>A NP_078853.2:p.Val1105Met
NM_024577.4:c.3313G>A MANE Select NP_078853.2:p.Val1105Met
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