Canonical Allele Identifier: CA447399490

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407357T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027794T>G , CM000667.2:g.149027794T>G	GRCh38
NC_000005.9:g.148407357T>G , CM000667.1:g.148407357T>G	GRCh37
NC_000005.8:g.148387550T>G	NCBI36
NG_007947.2:g.40381A>C , LRG_269:g.40381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1834A>C
ENST00000515425.6:c.1938A>C MANE Select	ENSP00000423660.1:p.Leu646=
ENST00000675793.1:c.*1222A>C	ENSP00000502039.1:n.*1222A>C
ENST00000676056.1:c.*1448A>C	ENSP00000501827.1:n.*1448A>C
ENST00000323829.9:c.*1326A>C	ENSP00000313025.5:n.*1326A>C
ENST00000504517.5:c.1468A>C	ENSP00000421779.1:n.1468A>C
ENST00000504690.5:c.1938A>C	ENSP00000425627.1:p.Leu646=
ENST00000510779.1:c.988A>C
ENST00000511307.5:c.*1718A>C	ENSP00000421420.1:n.*1718A>C
ENST00000512049.5:c.1917A>C	ENSP00000421860.1:p.Leu639=
ENST00000513604.5:c.*1326A>C	ENSP00000423111.1:n.*1326A>C
ENST00000515425.5:c.1938A>C	ENSP00000423660.1:p.Leu646=
NM_024577.3:c.1938A>C , LRG_269t1:c.1938A>C	NP_078853.2:p.Leu646=
NM_024577.4:c.1938A>C MANE Select	NP_078853.2:p.Leu646=