Canonical Allele Identifier: CA3498749
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2197256
ClinVar RCV Id: RCV002637560 RCV003225254
dbSNP Id: rs567467816
ExAC: 5:148388474 C / T
gnomAD v2: 5-148388474-C-T
gnomAD v3: 5-149008911-C-T
gnomAD v4: 5-149008911-C-T
COSMIC: COSM4543656
MyVariant Identifiers: chr5:g.148388474C>T (hg19) chr5:g.149008911C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008911C>T , CM000667.2:g.149008911C>T GRCh38
NC_000005.9:g.148388474C>T , CM000667.1:g.148388474C>T GRCh37
NC_000005.8:g.148368667C>T NCBI36
NG_007947.2:g.59264G>A , LRG_269:g.59264G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3314G>A
ENST00000515425.6:c.3418G>A MANE Select ENSP00000423660.1:p.Glu1140Lys
ENST00000675793.1:c.*2702G>A ENSP00000502039.1:n.*2702G>A
ENST00000323829.9:c.*2806G>A ENSP00000313025.5:n.*2806G>A
ENST00000504517.5:c.2948G>A ENSP00000421779.1:n.2948G>A
ENST00000504690.5:c.3418G>A ENSP00000425627.1:p.Glu1140Lys
ENST00000510779.1:c.2468G>A
ENST00000512049.5:c.3397G>A ENSP00000421860.1:p.Glu1133Lys
ENST00000515229.5:n.80G>A
ENST00000515425.5:c.3418G>A ENSP00000423660.1:p.Glu1140Lys
NM_024577.3:c.3418G>A , LRG_269t1:c.3418G>A NP_078853.2:p.Glu1140Lys
NM_024577.4:c.3418G>A MANE Select NP_078853.2:p.Glu1140Lys
Search 100 bp 5'
Search 100 bp 3'