Canonical Allele Identifier: CA361663129

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149012710G>T , CM000667.2:g.149012710G>T	GRCh38
NC_000005.9:g.148392273G>T , CM000667.1:g.148392273G>T	GRCh37
NC_000005.8:g.148372466G>T	NCBI36
NG_007947.2:g.55465C>A , LRG_269:g.55465C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3078C>A MANE Select	NP_078853.2:p.Cys1026Ter
ENST00000515425.6:c.3078C>A MANE Select	ENSP00000423660.1:p.Cys1026Ter
NM_024577.3:c.3078C>A , LRG_269t1:c.3078C>A	NP_078853.2:p.Cys1026Ter
ENST00000323829.9:c.*2466C>A	ENSP00000313025.5:n.*2466C>A
ENST00000502274.2:c.2974C>A
ENST00000504517.5:c.2608C>A	ENSP00000421779.1:n.2608C>A
ENST00000504690.5:c.3078C>A	ENSP00000425627.1:p.Cys1026Ter
ENST00000510779.1:c.2128C>A
ENST00000512049.5:c.3057C>A	ENSP00000421860.1:p.Cys1019Ter
ENST00000515425.5:c.3078C>A	ENSP00000423660.1:p.Cys1026Ter
ENST00000675793.1:c.*2362C>A	ENSP00000502039.1:n.*2362C>A
ENST00000676056.1:c.*2729C>A	ENSP00000501827.1:n.*2729C>A