Canonical Allele Identifier: CA361664020

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148386513A>C (hg19) ; chr5:g.149006950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006950A>C , CM000667.2:g.149006950A>C	GRCh38
NC_000005.9:g.148386513A>C , CM000667.1:g.148386513A>C	GRCh37
NC_000005.8:g.148366706A>C	NCBI36
NG_007947.2:g.61225T>G , LRG_269:g.61225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4459T>G
ENST00000515425.6:c.3606T>G MANE Select	ENSP00000423660.1:p.Ser1202Arg
ENST00000675793.1:c.*4663T>G	ENSP00000502039.1:n.*4663T>G
ENST00000323829.9:c.*2994T>G	ENSP00000313025.5:n.*2994T>G
ENST00000502274.1:c.192T>G	ENSP00000421092.1:p.Ser64Arg
ENST00000504517.5:c.3128T>G	ENSP00000421779.1:n.3128T>G
ENST00000504690.5:c.3606T>G	ENSP00000425627.1:p.Ser1202Arg
ENST00000510350.1:n.162T>G
ENST00000510779.1:c.2656T>G
ENST00000512049.5:c.3585T>G	ENSP00000421860.1:p.Ser1195Arg
ENST00000515229.5:n.268T>G
ENST00000515425.5:c.3606T>G	ENSP00000423660.1:p.Ser1202Arg
NM_024577.3:c.3606T>G , LRG_269t1:c.3606T>G	NP_078853.2:p.Ser1202Arg
NM_024577.4:c.3606T>G MANE Select	NP_078853.2:p.Ser1202Arg