Canonical Allele Identifier: CA361666036

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027133G>A , CM000667.2:g.149027133G>A	GRCh38
NC_000005.9:g.148406696G>A , CM000667.1:g.148406696G>A	GRCh37
NC_000005.8:g.148386889G>A	NCBI36
NG_007947.2:g.41042C>T , LRG_269:g.41042C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.2599C>T MANE Select	NP_078853.2:p.Gln867Ter
ENST00000515425.6:c.2599C>T MANE Select	ENSP00000423660.1:p.Gln867Ter
NM_024577.3:c.2599C>T , LRG_269t1:c.2599C>T	NP_078853.2:p.Gln867Ter
ENST00000323829.9:c.*1987C>T	ENSP00000313025.5:n.*1987C>T
ENST00000502274.2:c.2495C>T
ENST00000504517.5:c.2129C>T	ENSP00000421779.1:n.2129C>T
ENST00000504690.5:c.2599C>T	ENSP00000425627.1:p.Gln867Ter
ENST00000510779.1:c.1649C>T
ENST00000511307.5:c.*2379C>T	ENSP00000421420.1:n.*2379C>T
ENST00000512049.5:c.2578C>T	ENSP00000421860.1:p.Gln860Ter
ENST00000513604.5:c.*1987C>T	ENSP00000423111.1:n.*1987C>T
ENST00000515425.5:c.2599C>T	ENSP00000423660.1:p.Gln867Ter
ENST00000675793.1:c.*1883C>T	ENSP00000502039.1:n.*1883C>T
ENST00000676056.1:c.*2109C>T	ENSP00000501827.1:n.*2109C>T