Canonical Allele Identifier: CA3499167

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 407267
• ClinVar RCV Id: RCV000462842 ; RCV000507530 ; RCV001173158 ; RCV002393104 ; RCV004533178
• dbSNP Id: rs10077543
• ExAC: 5:148407812 T / C
• gnomAD v2: 5-148407812-T-C
• gnomAD v3: 5-149028249-T-C
• gnomAD v4: 5-149028249-T-C
• MyVariant Identifiers: chr5:g.148407812T>C (hg19) ; chr5:g.149028249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028249T>C , CM000667.2:g.149028249T>C	GRCh38
NC_000005.9:g.148407812T>C , CM000667.1:g.148407812T>C	GRCh37
NC_000005.8:g.148388005T>C	NCBI36
NG_007947.2:g.39926A>G , LRG_269:g.39926A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1396-17A>G
ENST00000515425.6:c.1483A>G MANE Select	ENSP00000423660.1:p.Thr495Ala
ENST00000675793.1:c.*767A>G	ENSP00000502039.1:n.*767A>G
ENST00000676056.1:c.*993A>G	ENSP00000501827.1:n.*993A>G
ENST00000323829.9:c.*871A>G	ENSP00000313025.5:n.*871A>G
ENST00000504517.5:c.1013A>G	ENSP00000421779.1:n.1013A>G
ENST00000504690.5:c.1483A>G	ENSP00000425627.1:p.Thr495Ala
ENST00000510779.1:c.533A>G
ENST00000511307.5:c.*1263A>G	ENSP00000421420.1:n.*1263A>G
ENST00000512049.5:c.1462A>G	ENSP00000421860.1:p.Thr488Ala
ENST00000513604.5:c.*871A>G	ENSP00000423111.1:n.*871A>G
ENST00000515425.5:c.1483A>G	ENSP00000423660.1:p.Thr495Ala
NM_024577.3:c.1483A>G , LRG_269t1:c.1483A>G	NP_078853.2:p.Thr495Ala
NM_024577.4:c.1483A>G MANE Select	NP_078853.2:p.Thr495Ala