Canonical Allele Identifier: CA3498994

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027283C>A , CM000667.2:g.149027283C>A	GRCh38
NC_000005.9:g.148406846C>A , CM000667.1:g.148406846C>A	GRCh37
NC_000005.8:g.148387039C>A	NCBI36
NG_007947.2:g.40892G>T , LRG_269:g.40892G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.2449G>T MANE Select	NP_078853.2:p.Asp817Tyr
ENST00000515425.6:c.2449G>T MANE Select	ENSP00000423660.1:p.Asp817Tyr
NM_024577.3:c.2449G>T , LRG_269t1:c.2449G>T	NP_078853.2:p.Asp817Tyr
ENST00000323829.9:c.*1837G>T	ENSP00000313025.5:n.*1837G>T
ENST00000502274.2:c.2345G>T
ENST00000504517.5:c.1979G>T	ENSP00000421779.1:n.1979G>T
ENST00000504690.5:c.2449G>T	ENSP00000425627.1:p.Asp817Tyr
ENST00000510779.1:c.1499G>T
ENST00000511307.5:c.*2229G>T	ENSP00000421420.1:n.*2229G>T
ENST00000512049.5:c.2428G>T	ENSP00000421860.1:p.Asp810Tyr
ENST00000513604.5:c.*1837G>T	ENSP00000423111.1:n.*1837G>T
ENST00000515425.5:c.2449G>T	ENSP00000423660.1:p.Asp817Tyr
ENST00000675793.1:c.*1733G>T	ENSP00000502039.1:n.*1733G>T
ENST00000676056.1:c.*1959G>T	ENSP00000501827.1:n.*1959G>T