Canonical Allele Identifier: CA3498839

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149012638C>T , CM000667.2:g.149012638C>T	GRCh38
NC_000005.9:g.148392201C>T , CM000667.1:g.148392201C>T	GRCh37
NC_000005.8:g.148372394C>T	NCBI36
NG_007947.2:g.55537G>A , LRG_269:g.55537G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3150G>A MANE Select	NP_078853.2:p.Ala1050=
ENST00000515425.6:c.3150G>A MANE Select	ENSP00000423660.1:p.Ala1050=
NM_024577.3:c.3150G>A , LRG_269t1:c.3150G>A	NP_078853.2:p.Ala1050=
ENST00000323829.9:c.*2538G>A	ENSP00000313025.5:n.*2538G>A
ENST00000502274.2:c.3046G>A
ENST00000504517.5:c.2680G>A	ENSP00000421779.1:n.2680G>A
ENST00000504690.5:c.3150G>A	ENSP00000425627.1:p.Ala1050=
ENST00000510779.1:c.2200G>A
ENST00000512049.5:c.3129G>A	ENSP00000421860.1:p.Ala1043=
ENST00000515425.5:c.3150G>A	ENSP00000423660.1:p.Ala1050=
ENST00000675793.1:c.*2434G>A	ENSP00000502039.1:n.*2434G>A
ENST00000676056.1:c.*2801G>A	ENSP00000501827.1:n.*2801G>A