Canonical Allele Identifier: CA361667778

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407535T>C (hg19) ; chr5:g.149027972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027972T>C , CM000667.2:g.149027972T>C	GRCh38
NC_000005.9:g.148407535T>C , CM000667.1:g.148407535T>C	GRCh37
NC_000005.8:g.148387728T>C	NCBI36
NG_007947.2:g.40203A>G , LRG_269:g.40203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1656A>G
ENST00000515425.6:c.1760A>G MANE Select	ENSP00000423660.1:p.Lys587Arg
ENST00000675793.1:c.*1044A>G	ENSP00000502039.1:n.*1044A>G
ENST00000676056.1:c.*1270A>G	ENSP00000501827.1:n.*1270A>G
ENST00000323829.9:c.*1148A>G	ENSP00000313025.5:n.*1148A>G
ENST00000504517.5:c.1290A>G	ENSP00000421779.1:n.1290A>G
ENST00000504690.5:c.1760A>G	ENSP00000425627.1:p.Lys587Arg
ENST00000510779.1:c.810A>G
ENST00000511307.5:c.*1540A>G	ENSP00000421420.1:n.*1540A>G
ENST00000512049.5:c.1739A>G	ENSP00000421860.1:p.Lys580Arg
ENST00000513604.5:c.*1148A>G	ENSP00000423111.1:n.*1148A>G
ENST00000515425.5:c.1760A>G	ENSP00000423660.1:p.Lys587Arg
NM_024577.3:c.1760A>G , LRG_269t1:c.1760A>G	NP_078853.2:p.Lys587Arg
NM_024577.4:c.1760A>G MANE Select	NP_078853.2:p.Lys587Arg