Canonical Allele Identifier: CA361667724

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407509C>T (hg19) ; chr5:g.149027946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027946C>T , CM000667.2:g.149027946C>T	GRCh38
NC_000005.9:g.148407509C>T , CM000667.1:g.148407509C>T	GRCh37
NC_000005.8:g.148387702C>T	NCBI36
NG_007947.2:g.40229G>A , LRG_269:g.40229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1682G>A
ENST00000515425.6:c.1786G>A MANE Select	ENSP00000423660.1:p.Gly596Ser
ENST00000675793.1:c.*1070G>A	ENSP00000502039.1:n.*1070G>A
ENST00000676056.1:c.*1296G>A	ENSP00000501827.1:n.*1296G>A
ENST00000323829.9:c.*1174G>A	ENSP00000313025.5:n.*1174G>A
ENST00000504517.5:c.1316G>A	ENSP00000421779.1:n.1316G>A
ENST00000504690.5:c.1786G>A	ENSP00000425627.1:p.Gly596Ser
ENST00000510779.1:c.836G>A
ENST00000511307.5:c.*1566G>A	ENSP00000421420.1:n.*1566G>A
ENST00000512049.5:c.1765G>A	ENSP00000421860.1:p.Gly589Ser
ENST00000513604.5:c.*1174G>A	ENSP00000423111.1:n.*1174G>A
ENST00000515425.5:c.1786G>A	ENSP00000423660.1:p.Gly596Ser
NM_024577.3:c.1786G>A , LRG_269t1:c.1786G>A	NP_078853.2:p.Gly596Ser
NM_024577.4:c.1786G>A MANE Select	NP_078853.2:p.Gly596Ser