Canonical Allele Identifier: CA361667162

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1002488
• ClinVar RCV Id: RCV001298921
• dbSNP Id: rs1171441665
• MyVariant Identifiers: chr5:g.148407235T>C (hg19) ; chr5:g.149027672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027672T>C , CM000667.2:g.149027672T>C	GRCh38
NC_000005.9:g.148407235T>C , CM000667.1:g.148407235T>C	GRCh37
NC_000005.8:g.148387428T>C	NCBI36
NG_007947.2:g.40503A>G , LRG_269:g.40503A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1956A>G
ENST00000515425.6:c.2060A>G MANE Select	ENSP00000423660.1:p.His687Arg
ENST00000675793.1:c.*1344A>G	ENSP00000502039.1:n.*1344A>G
ENST00000676056.1:c.*1570A>G	ENSP00000501827.1:n.*1570A>G
ENST00000323829.9:c.*1448A>G	ENSP00000313025.5:n.*1448A>G
ENST00000504517.5:c.1590A>G	ENSP00000421779.1:n.1590A>G
ENST00000504690.5:c.2060A>G	ENSP00000425627.1:p.His687Arg
ENST00000510779.1:c.1110A>G
ENST00000511307.5:c.*1840A>G	ENSP00000421420.1:n.*1840A>G
ENST00000512049.5:c.2039A>G	ENSP00000421860.1:p.His680Arg
ENST00000513604.5:c.*1448A>G	ENSP00000423111.1:n.*1448A>G
ENST00000515425.5:c.2060A>G	ENSP00000423660.1:p.His687Arg
NM_024577.3:c.2060A>G , LRG_269t1:c.2060A>G	NP_078853.2:p.His687Arg
NM_024577.4:c.2060A>G MANE Select	NP_078853.2:p.His687Arg