Canonical Allele Identifier: CA447399477

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407297A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027734A>C , CM000667.2:g.149027734A>C	GRCh38
NC_000005.9:g.148407297A>C , CM000667.1:g.148407297A>C	GRCh37
NC_000005.8:g.148387490A>C	NCBI36
NG_007947.2:g.40441T>G , LRG_269:g.40441T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1894T>G
ENST00000515425.6:c.1998T>G MANE Select	ENSP00000423660.1:p.Pro666=
ENST00000675793.1:c.*1282T>G	ENSP00000502039.1:n.*1282T>G
ENST00000676056.1:c.*1508T>G	ENSP00000501827.1:n.*1508T>G
ENST00000323829.9:c.*1386T>G	ENSP00000313025.5:n.*1386T>G
ENST00000504517.5:c.1528T>G	ENSP00000421779.1:n.1528T>G
ENST00000504690.5:c.1998T>G	ENSP00000425627.1:p.Pro666=
ENST00000510779.1:c.1048T>G
ENST00000511307.5:c.*1778T>G	ENSP00000421420.1:n.*1778T>G
ENST00000512049.5:c.1977T>G	ENSP00000421860.1:p.Pro659=
ENST00000513604.5:c.*1386T>G	ENSP00000423111.1:n.*1386T>G
ENST00000515425.5:c.1998T>G	ENSP00000423660.1:p.Pro666=
NM_024577.3:c.1998T>G , LRG_269t1:c.1998T>G	NP_078853.2:p.Pro666=
NM_024577.4:c.1998T>G MANE Select	NP_078853.2:p.Pro666=