Canonical Allele Identifier: CA447107977

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2065951
• ClinVar RCV Id: RCV002948805
• MyVariant Identifiers: chr5:g.148406170G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026607G>A , CM000667.2:g.149026607G>A	GRCh38
NC_000005.9:g.148406170G>A , CM000667.1:g.148406170G>A	GRCh37
NC_000005.8:g.148386363G>A	NCBI36
NG_007947.2:g.41568C>T , LRG_269:g.41568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2914C>T
ENST00000515425.6:c.3018C>T MANE Select	ENSP00000423660.1:p.Ser1006=
ENST00000675793.1:c.*2302C>T	ENSP00000502039.1:n.*2302C>T
ENST00000676056.1:c.*2528C>T	ENSP00000501827.1:n.*2528C>T
ENST00000323829.9:c.*2406C>T	ENSP00000313025.5:n.*2406C>T
ENST00000504517.5:c.2548C>T	ENSP00000421779.1:n.2548C>T
ENST00000504690.5:c.3018C>T	ENSP00000425627.1:p.Ser1006=
ENST00000510779.1:c.2068C>T
ENST00000511307.5:c.*2905C>T	ENSP00000421420.1:n.*2905C>T
ENST00000512049.5:c.2997C>T	ENSP00000421860.1:p.Ser999=
ENST00000513604.5:c.*2513C>T	ENSP00000423111.1:n.*2513C>T
ENST00000515425.5:c.3018C>T	ENSP00000423660.1:p.Ser1006=
NM_024577.3:c.3018C>T , LRG_269t1:c.3018C>T	NP_078853.2:p.Ser1006=
NM_024577.4:c.3018C>T MANE Select	NP_078853.2:p.Ser1006=