Canonical Allele Identifier: CA342384
Gene: SH3TC2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149010271C>G
GRCh37 chr5:g.148389834C>G
Revel Score:
ENST00000538184 0.704
ENST00000515425 (MANE Select) 0.704
ENST00000512049 0.704
ClinVar RCV:
RCV000790208
ClinVar Variation:
21698
dbSNP:
80338935
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149010271C>G , CM000667.2:g.149010271C>G GRCh38
NC_000005.9:g.148389834C>G , CM000667.1:g.148389834C>G GRCh37
NC_000005.8:g.148370027C>G NCBI36
NG_007947.2:g.57904G>C , LRG_269:g.57904G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3222G>C
ENST00000515425.6:c.3326G>C MANE Select ENSP00000423660.1:p.Arg1109Pro
ENST00000675793.1:c.*2610G>C ENSP00000502039.1:n.*2610G>C
ENST00000323829.9:c.*2714G>C ENSP00000313025.5:n.*2714G>C
ENST00000504517.5:c.2856G>C ENSP00000421779.1:n.2856G>C
ENST00000504690.5:c.3326G>C ENSP00000425627.1:p.Arg1109Pro
ENST00000510779.1:c.2376G>C
ENST00000512049.5:c.3305G>C ENSP00000421860.1:p.Arg1102Pro
ENST00000515425.5:c.3326G>C ENSP00000423660.1:p.Arg1109Pro
NM_024577.3:c.3326G>C , LRG_269t1:c.3326G>C NP_078853.2:p.Arg1109Pro
NM_024577.4:c.3326G>C MANE Select NP_078853.2:p.Arg1109Pro
Search 100 bp 5'
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