Canonical Allele Identifier: CA361667655

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2129943
• ClinVar RCV Id: RCV003050260
• gnomAD v4: 5-149027909-C-T
• MyVariant Identifiers: chr5:g.148407472C>T (hg19) ; chr5:g.149027909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027909C>T , CM000667.2:g.149027909C>T	GRCh38
NC_000005.9:g.148407472C>T , CM000667.1:g.148407472C>T	GRCh37
NC_000005.8:g.148387665C>T	NCBI36
NG_007947.2:g.40266G>A , LRG_269:g.40266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1719G>A
ENST00000515425.6:c.1823G>A MANE Select	ENSP00000423660.1:p.Ser608Asn
ENST00000675793.1:c.*1107G>A	ENSP00000502039.1:n.*1107G>A
ENST00000676056.1:c.*1333G>A	ENSP00000501827.1:n.*1333G>A
ENST00000323829.9:c.*1211G>A	ENSP00000313025.5:n.*1211G>A
ENST00000504517.5:c.1353G>A	ENSP00000421779.1:n.1353G>A
ENST00000504690.5:c.1823G>A	ENSP00000425627.1:p.Ser608Asn
ENST00000510779.1:c.873G>A
ENST00000511307.5:c.*1603G>A	ENSP00000421420.1:n.*1603G>A
ENST00000512049.5:c.1802G>A	ENSP00000421860.1:p.Ser601Asn
ENST00000513604.5:c.*1211G>A	ENSP00000423111.1:n.*1211G>A
ENST00000515425.5:c.1823G>A	ENSP00000423660.1:p.Ser608Asn
NM_024577.3:c.1823G>A , LRG_269t1:c.1823G>A	NP_078853.2:p.Ser608Asn
NM_024577.4:c.1823G>A MANE Select	NP_078853.2:p.Ser608Asn