Canonical Allele Identifier: CA3498889

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 246193
• ClinVar RCV Id: RCV000236841 ; RCV000477370 ; RCV000767114 ; RCV000765819 ; RCV001173155 ; RCV002436061
• dbSNP Id: rs575937427
• ExAC: 5:148406234 T / C
• gnomAD v2: 5-148406234-T-C
• gnomAD v3: 5-149026671-T-C
• gnomAD v4: 5-149026671-T-C
• MyVariant Identifiers: chr5:g.148406234T>C (hg19) ; chr5:g.149026671T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026671T>C , CM000667.2:g.149026671T>C	GRCh38
NC_000005.9:g.148406234T>C , CM000667.1:g.148406234T>C	GRCh37
NC_000005.8:g.148386427T>C	NCBI36
NG_007947.2:g.41504A>G , LRG_269:g.41504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2850A>G
ENST00000515425.6:c.2954A>G MANE Select	ENSP00000423660.1:p.Glu985Gly
ENST00000675793.1:c.*2238A>G	ENSP00000502039.1:n.*2238A>G
ENST00000676056.1:c.*2464A>G	ENSP00000501827.1:n.*2464A>G
ENST00000323829.9:c.*2342A>G	ENSP00000313025.5:n.*2342A>G
ENST00000504517.5:c.2484A>G	ENSP00000421779.1:n.2484A>G
ENST00000504690.5:c.2954A>G	ENSP00000425627.1:p.Glu985Gly
ENST00000510779.1:c.2004A>G
ENST00000511307.5:c.*2841A>G	ENSP00000421420.1:n.*2841A>G
ENST00000512049.5:c.2933A>G	ENSP00000421860.1:p.Glu978Gly
ENST00000513604.5:c.*2449A>G	ENSP00000423111.1:n.*2449A>G
ENST00000515425.5:c.2954A>G	ENSP00000423660.1:p.Glu985Gly
NM_024577.3:c.2954A>G , LRG_269t1:c.2954A>G	NP_078853.2:p.Glu985Gly
NM_024577.4:c.2954A>G MANE Select	NP_078853.2:p.Glu985Gly