Canonical Allele Identifier: CA3499137

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351913
• ClinVar RCV Id: RCV000310013 ; RCV000490113 ; RCV000525499 ; RCV001095013 ; RCV001173167 ; RCV002402071
• dbSNP Id: rs201256776
• ExAC: 5:148407574 T / C
• gnomAD v2: 5-148407574-T-C
• gnomAD v3: 5-149028011-T-C
• gnomAD v4: 5-149028011-T-C
• MyVariant Identifiers: chr5:g.148407574T>C (hg19) ; chr5:g.149028011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028011T>C , CM000667.2:g.149028011T>C	GRCh38
NC_000005.9:g.148407574T>C , CM000667.1:g.148407574T>C	GRCh37
NC_000005.8:g.148387767T>C	NCBI36
NG_007947.2:g.40164A>G , LRG_269:g.40164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1617A>G
ENST00000515425.6:c.1721A>G MANE Select	ENSP00000423660.1:p.Asn574Ser
ENST00000675793.1:c.*1005A>G	ENSP00000502039.1:n.*1005A>G
ENST00000676056.1:c.*1231A>G	ENSP00000501827.1:n.*1231A>G
ENST00000323829.9:c.*1109A>G	ENSP00000313025.5:n.*1109A>G
ENST00000504517.5:c.1251A>G	ENSP00000421779.1:n.1251A>G
ENST00000504690.5:c.1721A>G	ENSP00000425627.1:p.Asn574Ser
ENST00000510779.1:c.771A>G
ENST00000511307.5:c.*1501A>G	ENSP00000421420.1:n.*1501A>G
ENST00000512049.5:c.1700A>G	ENSP00000421860.1:p.Asn567Ser
ENST00000513604.5:c.*1109A>G	ENSP00000423111.1:n.*1109A>G
ENST00000515425.5:c.1721A>G	ENSP00000423660.1:p.Asn574Ser
NM_024577.3:c.1721A>G , LRG_269t1:c.1721A>G	NP_078853.2:p.Asn574Ser
NM_024577.4:c.1721A>G MANE Select	NP_078853.2:p.Asn574Ser