Canonical Allele Identifier: CA342371

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 21688
• ClinVar RCV Id: RCV000020886 ; RCV000789563
• dbSNP Id: rs80338922
• MyVariant Identifiers: chr5:g.148408118C>T (hg19) ; chr5:g.149028555C>T (hg38)
• PubMed: PMID:20301514

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028555C>T , CM000667.2:g.149028555C>T	GRCh38
NC_000005.9:g.148408118C>T , CM000667.1:g.148408118C>T	GRCh37
NC_000005.8:g.148388311C>T	NCBI36
NG_007947.2:g.39620G>A , LRG_269:g.39620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1198-1G>A
ENST00000515425.6:c.1178-1G>A MANE Select	ENSP00000423660.1:n.1178-1G>A
ENST00000675793.1:c.*462-1G>A	ENSP00000502039.1:n.*462-1G>A
ENST00000676056.1:c.*687G>A	ENSP00000501827.1:n.*687G>A
ENST00000323829.9:c.*566-1G>A	ENSP00000313025.5:n.*566-1G>A
ENST00000504517.5:c.708-1G>A	ENSP00000421779.1:n.708-1G>A
ENST00000504690.5:c.1178-1G>A	ENSP00000425627.1:n.1178-1G>A
ENST00000510779.1:c.227G>A
ENST00000511307.5:c.*958-1G>A	ENSP00000421420.1:n.*958-1G>A
ENST00000512049.5:c.1157-1G>A	ENSP00000421860.1:n.1157-1G>A
ENST00000513340.1:n.552-1G>A
ENST00000513604.5:c.*566-1G>A	ENSP00000423111.1:n.*566-1G>A
ENST00000515425.5:c.1178-1G>A	ENSP00000423660.1:n.1178-1G>A
NM_024577.3:c.1178-1G>A , LRG_269t1:c.1178-1G>A	NP_078853.2:n.1178-1G>A
NM_024577.4:c.1178-1G>A MANE Select	NP_078853.2:n.1178-1G>A