Canonical Allele Identifier: CA3498756
Gene: SH3TC2 HGNC NCBI
COSMIC:
COSM4891708 (not active)
MyVariant.info:
GRCh38 chr5:g.149008949C>T
GRCh37 chr5:g.148388512C>T
Revel Score:
ENST00000538184 0.573
ENST00000515425 (MANE Select) 0.573
ENST00000512049 0.573
gnomAD v2:
5:148388512 C / T
gnomAD v3:
5:149008949 C / T
gnomAD v4:
chr5-149008949-C-T
Joint Max Group AF 0.00250274 (NFE)
Genomes Max Group AF 0.00173881 (NFE)
Exomes Max Group AF 0.00253449 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008949C>T , CM000667.2:g.149008949C>T GRCh38
NC_000005.9:g.148388512C>T , CM000667.1:g.148388512C>T GRCh37
NC_000005.8:g.148368705C>T NCBI36
NG_007947.2:g.59226G>A , LRG_269:g.59226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3276G>A
ENST00000515425.6:c.3380G>A MANE Select ENSP00000423660.1:p.Arg1127Gln
ENST00000675793.1:c.*2664G>A ENSP00000502039.1:n.*2664G>A
ENST00000323829.9:c.*2768G>A ENSP00000313025.5:n.*2768G>A
ENST00000504517.5:c.2910G>A ENSP00000421779.1:n.2910G>A
ENST00000504690.5:c.3380G>A ENSP00000425627.1:p.Arg1127Gln
ENST00000510779.1:c.2430G>A
ENST00000512049.5:c.3359G>A ENSP00000421860.1:p.Arg1120Gln
ENST00000515229.5:n.42G>A
ENST00000515425.5:c.3380G>A ENSP00000423660.1:p.Arg1127Gln
NM_024577.3:c.3380G>A , LRG_269t1:c.3380G>A NP_078853.2:p.Arg1127Gln
NM_024577.4:c.3380G>A MANE Select NP_078853.2:p.Arg1127Gln
Search 100 bp 5'
Search 100 bp 3'