Canonical Allele Identifier: CA361664784

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149010276G>T , CM000667.2:g.149010276G>T	GRCh38
NC_000005.9:g.148389839G>T , CM000667.1:g.148389839G>T	GRCh37
NC_000005.8:g.148370032G>T	NCBI36
NG_007947.2:g.57899C>A , LRG_269:g.57899C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3321C>A MANE Select	NP_078853.2:p.Tyr1107Ter
ENST00000515425.6:c.3321C>A MANE Select	ENSP00000423660.1:p.Tyr1107Ter
NM_024577.3:c.3321C>A , LRG_269t1:c.3321C>A	NP_078853.2:p.Tyr1107Ter
ENST00000323829.9:c.*2709C>A	ENSP00000313025.5:n.*2709C>A
ENST00000502274.2:c.3217C>A
ENST00000504517.5:c.2851C>A	ENSP00000421779.1:n.2851C>A
ENST00000504690.5:c.3321C>A	ENSP00000425627.1:p.Tyr1107Ter
ENST00000510779.1:c.2371C>A
ENST00000512049.5:c.3300C>A	ENSP00000421860.1:p.Tyr1100Ter
ENST00000515425.5:c.3321C>A	ENSP00000423660.1:p.Tyr1107Ter
ENST00000675793.1:c.*2605C>A	ENSP00000502039.1:n.*2605C>A