Canonical Allele Identifier: CA361674224

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149041417G>A , CM000667.2:g.149041417G>A	GRCh38
NC_000005.9:g.148420980G>A , CM000667.1:g.148420980G>A	GRCh37
NC_000005.8:g.148401173G>A	NCBI36
NG_007947.2:g.26758C>T , LRG_269:g.26758C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.730C>T MANE Select	NP_078853.2:p.Gln244Ter
ENST00000515425.6:c.730C>T MANE Select	ENSP00000423660.1:p.Gln244Ter
NM_024577.3:c.730C>T , LRG_269t1:c.730C>T	NP_078853.2:p.Gln244Ter
ENST00000323829.9:c.673+57C>T	ENSP00000313025.5:n.673+57C>T
ENST00000502274.2:c.621+57C>T
ENST00000503071.1:n.198+57C>T
ENST00000504517.5:c.130C>T	ENSP00000421779.1:p.Gln44Ter
ENST00000504690.5:c.730C>T	ENSP00000425627.1:p.Gln244Ter
ENST00000511307.5:c.*510C>T	ENSP00000421420.1:n.*510C>T
ENST00000512049.5:c.709C>T	ENSP00000421860.1:p.Gln237Ter
ENST00000513604.5:c.673+57C>T	ENSP00000423111.1:n.673+57C>T
ENST00000515425.5:c.730C>T	ENSP00000423660.1:p.Gln244Ter
ENST00000674983.1:c.673+57C>T	ENSP00000502387.1:n.673+57C>T
ENST00000675793.1:c.730C>T	ENSP00000502039.1:p.Gln244Ter
ENST00000676056.1:c.673+57C>T	ENSP00000501827.1:n.673+57C>T
ENST00000676367.1:n.289+57C>T