Canonical Allele Identifier: CA447399340

Gene: SH3TC2

Linked Data

• COSMIC: COSM5811733 ; COSM5811734
• MyVariant Identifiers: chr5:g.148407114T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027551T>A , CM000667.2:g.149027551T>A	GRCh38
NC_000005.9:g.148407114T>A , CM000667.1:g.148407114T>A	GRCh37
NC_000005.8:g.148387307T>A	NCBI36
NG_007947.2:g.40624A>T , LRG_269:g.40624A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2077A>T
ENST00000515425.6:c.2181A>T MANE Select	ENSP00000423660.1:p.Pro727=
ENST00000675793.1:c.*1465A>T	ENSP00000502039.1:n.*1465A>T
ENST00000676056.1:c.*1691A>T	ENSP00000501827.1:n.*1691A>T
ENST00000323829.9:c.*1569A>T	ENSP00000313025.5:n.*1569A>T
ENST00000504517.5:c.1711A>T	ENSP00000421779.1:n.1711A>T
ENST00000504690.5:c.2181A>T	ENSP00000425627.1:p.Pro727=
ENST00000510779.1:c.1231A>T
ENST00000511307.5:c.*1961A>T	ENSP00000421420.1:n.*1961A>T
ENST00000512049.5:c.2160A>T	ENSP00000421860.1:p.Pro720=
ENST00000513604.5:c.*1569A>T	ENSP00000423111.1:n.*1569A>T
ENST00000515425.5:c.2181A>T	ENSP00000423660.1:p.Pro727=
NM_024577.3:c.2181A>T , LRG_269t1:c.2181A>T	NP_078853.2:p.Pro727=
NM_024577.4:c.2181A>T MANE Select	NP_078853.2:p.Pro727=