Canonical Allele Identifier: CA447399358

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407132G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027569G>T , CM000667.2:g.149027569G>T	GRCh38
NC_000005.9:g.148407132G>T , CM000667.1:g.148407132G>T	GRCh37
NC_000005.8:g.148387325G>T	NCBI36
NG_007947.2:g.40606C>A , LRG_269:g.40606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2059C>A
ENST00000515425.6:c.2163C>A MANE Select	ENSP00000423660.1:p.Leu721=
ENST00000675793.1:c.*1447C>A	ENSP00000502039.1:n.*1447C>A
ENST00000676056.1:c.*1673C>A	ENSP00000501827.1:n.*1673C>A
ENST00000323829.9:c.*1551C>A	ENSP00000313025.5:n.*1551C>A
ENST00000504517.5:c.1693C>A	ENSP00000421779.1:n.1693C>A
ENST00000504690.5:c.2163C>A	ENSP00000425627.1:p.Leu721=
ENST00000510779.1:c.1213C>A
ENST00000511307.5:c.*1943C>A	ENSP00000421420.1:n.*1943C>A
ENST00000512049.5:c.2142C>A	ENSP00000421860.1:p.Leu714=
ENST00000513604.5:c.*1551C>A	ENSP00000423111.1:n.*1551C>A
ENST00000515425.5:c.2163C>A	ENSP00000423660.1:p.Leu721=
NM_024577.3:c.2163C>A , LRG_269t1:c.2163C>A	NP_078853.2:p.Leu721=
NM_024577.4:c.2163C>A MANE Select	NP_078853.2:p.Leu721=