Canonical Allele Identifier: CA3499072

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1040454
• ClinVar RCV Id: RCV001344105
• dbSNP Id: rs763952745
• ExAC: 5:148407256 T / C
• gnomAD v2: 5-148407256-T-C
• gnomAD v4: 5-149027693-T-C
• MyVariant Identifiers: chr5:g.148407256T>C (hg19) ; chr5:g.149027693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027693T>C , CM000667.2:g.149027693T>C	GRCh38
NC_000005.9:g.148407256T>C , CM000667.1:g.148407256T>C	GRCh37
NC_000005.8:g.148387449T>C	NCBI36
NG_007947.2:g.40482A>G , LRG_269:g.40482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1935A>G
ENST00000515425.6:c.2039A>G MANE Select	ENSP00000423660.1:p.Tyr680Cys
ENST00000675793.1:c.*1323A>G	ENSP00000502039.1:n.*1323A>G
ENST00000676056.1:c.*1549A>G	ENSP00000501827.1:n.*1549A>G
ENST00000323829.9:c.*1427A>G	ENSP00000313025.5:n.*1427A>G
ENST00000504517.5:c.1569A>G	ENSP00000421779.1:n.1569A>G
ENST00000504690.5:c.2039A>G	ENSP00000425627.1:p.Tyr680Cys
ENST00000510779.1:c.1089A>G
ENST00000511307.5:c.*1819A>G	ENSP00000421420.1:n.*1819A>G
ENST00000512049.5:c.2018A>G	ENSP00000421860.1:p.Tyr673Cys
ENST00000513604.5:c.*1427A>G	ENSP00000423111.1:n.*1427A>G
ENST00000515425.5:c.2039A>G	ENSP00000423660.1:p.Tyr680Cys
NM_024577.3:c.2039A>G , LRG_269t1:c.2039A>G	NP_078853.2:p.Tyr680Cys
NM_024577.4:c.2039A>G MANE Select	NP_078853.2:p.Tyr680Cys