Canonical Allele Identifier: CA447399840

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1754104323
• MyVariant Identifiers: chr5:g.148407558G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027995G>A , CM000667.2:g.149027995G>A	GRCh38
NC_000005.9:g.148407558G>A , CM000667.1:g.148407558G>A	GRCh37
NC_000005.8:g.148387751G>A	NCBI36
NG_007947.2:g.40180C>T , LRG_269:g.40180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1633C>T
ENST00000515425.6:c.1737C>T MANE Select	ENSP00000423660.1:p.Tyr579=
ENST00000675793.1:c.*1021C>T	ENSP00000502039.1:n.*1021C>T
ENST00000676056.1:c.*1247C>T	ENSP00000501827.1:n.*1247C>T
ENST00000323829.9:c.*1125C>T	ENSP00000313025.5:n.*1125C>T
ENST00000504517.5:c.1267C>T	ENSP00000421779.1:n.1267C>T
ENST00000504690.5:c.1737C>T	ENSP00000425627.1:p.Tyr579=
ENST00000510779.1:c.787C>T
ENST00000511307.5:c.*1517C>T	ENSP00000421420.1:n.*1517C>T
ENST00000512049.5:c.1716C>T	ENSP00000421860.1:p.Tyr572=
ENST00000513604.5:c.*1125C>T	ENSP00000423111.1:n.*1125C>T
ENST00000515425.5:c.1737C>T	ENSP00000423660.1:p.Tyr579=
NM_024577.3:c.1737C>T , LRG_269t1:c.1737C>T	NP_078853.2:p.Tyr579=
NM_024577.4:c.1737C>T MANE Select	NP_078853.2:p.Tyr579=