Canonical Allele Identifier: CA128985300

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028182C>T , CM000667.2:g.149028182C>T	GRCh38
NC_000005.9:g.148407745C>T , CM000667.1:g.148407745C>T	GRCh37
NC_000005.8:g.148387938C>T	NCBI36
NG_007947.2:g.39993G>A , LRG_269:g.39993G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1550G>A MANE Select	NP_078853.2:p.Trp517Ter
ENST00000515425.6:c.1550G>A MANE Select	ENSP00000423660.1:p.Trp517Ter
NM_024577.3:c.1550G>A , LRG_269t1:c.1550G>A	NP_078853.2:p.Trp517Ter
ENST00000323829.9:c.*938G>A	ENSP00000313025.5:n.*938G>A
ENST00000502274.2:c.1446G>A
ENST00000504517.5:c.1080G>A	ENSP00000421779.1:n.1080G>A
ENST00000504690.5:c.1550G>A	ENSP00000425627.1:p.Trp517Ter
ENST00000510779.1:c.600G>A
ENST00000511307.5:c.*1330G>A	ENSP00000421420.1:n.*1330G>A
ENST00000512049.5:c.1529G>A	ENSP00000421860.1:p.Trp510Ter
ENST00000513604.5:c.*938G>A	ENSP00000423111.1:n.*938G>A
ENST00000515425.5:c.1550G>A	ENSP00000423660.1:p.Trp517Ter
ENST00000675793.1:c.*834G>A	ENSP00000502039.1:n.*834G>A
ENST00000676056.1:c.*1060G>A	ENSP00000501827.1:n.*1060G>A