Canonical Allele Identifier: CA2838397719

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027803dup , CM000667.2:g.149027803dup	GRCh38
NC_000005.9:g.148407366dup , CM000667.1:g.148407366dup	GRCh37
NC_000005.8:g.148387559dup	NCBI36
NG_007947.2:g.40373dup , LRG_269:g.40373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1826dup
ENST00000515425.6:c.1930dup MANE Select	ENSP00000423660.1:p.Leu644ProfsTer27
ENST00000675793.1:c.*1214dup	ENSP00000502039.1:n.*1214dup
ENST00000676056.1:c.*1440dup	ENSP00000501827.1:n.*1440dup
ENST00000323829.9:c.*1318dup	ENSP00000313025.5:n.*1318dup
ENST00000504517.5:c.1460dup	ENSP00000421779.1:n.1460dup
ENST00000504690.5:c.1930dup	ENSP00000425627.1:p.Leu644ProfsTer27
ENST00000510779.1:c.980dup
ENST00000511307.5:c.*1710dup	ENSP00000421420.1:n.*1710dup
ENST00000512049.5:c.1909dup	ENSP00000421860.1:p.Leu637ProfsTer27
ENST00000513604.5:c.*1318dup	ENSP00000423111.1:n.*1318dup
ENST00000515425.5:c.1930dup	ENSP00000423660.1:p.Leu644ProfsTer27
NM_024577.3:c.1930dup , LRG_269t1:c.1930dup	NP_078853.2:p.Leu644ProfsTer27
NM_024577.4:c.1930dup MANE Select	NP_078853.2:p.Leu644ProfsTer27