Allele Registry

Canonical Allele Identifier: CA10584269

Gene: SH3TC2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr5:g.149027244C>A

GRCh37 chr5:g.148406807C>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000235715

ClinVar Variation:

246578

dbSNP:

879254317

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027244C>A , CM000667.2:g.149027244C>A	GRCh38
NC_000005.9:g.148406807C>A , CM000667.1:g.148406807C>A	GRCh37
NC_000005.8:g.148387000C>A	NCBI36
NG_007947.2:g.40931G>T , LRG_269:g.40931G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2384G>T
ENST00000515425.6:c.2488G>T MANE Select	ENSP00000423660.1:p.Glu830Ter
ENST00000675793.1:c.*1772G>T	ENSP00000502039.1:n.*1772G>T
ENST00000676056.1:c.*1998G>T	ENSP00000501827.1:n.*1998G>T
ENST00000323829.9:c.*1876G>T	ENSP00000313025.5:n.*1876G>T
ENST00000504517.5:c.2018G>T	ENSP00000421779.1:n.2018G>T
ENST00000504690.5:c.2488G>T	ENSP00000425627.1:p.Glu830Ter
ENST00000510779.1:c.1538G>T
ENST00000511307.5:c.*2268G>T	ENSP00000421420.1:n.*2268G>T
ENST00000512049.5:c.2467G>T	ENSP00000421860.1:p.Glu823Ter
ENST00000513604.5:c.*1876G>T	ENSP00000423111.1:n.*1876G>T
ENST00000515425.5:c.2488G>T	ENSP00000423660.1:p.Glu830Ter
NM_024577.3:c.2488G>T , LRG_269t1:c.2488G>T	NP_078853.2:p.Glu830Ter
NM_024577.4:c.2488G>T MANE Select	NP_078853.2:p.Glu830Ter

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