Canonical Allele Identifier: CA3498926

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1924740
• ClinVar RCV Id: RCV002614013
• dbSNP Id: rs762777717
• ExAC: 5:148406442 T / C
• gnomAD v2: 5-148406442-T-C
• gnomAD v4: 5-149026879-T-C
• MyVariant Identifiers: chr5:g.148406442T>C (hg19) ; chr5:g.149026879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026879T>C , CM000667.2:g.149026879T>C	GRCh38
NC_000005.9:g.148406442T>C , CM000667.1:g.148406442T>C	GRCh37
NC_000005.8:g.148386635T>C	NCBI36
NG_007947.2:g.41296A>G , LRG_269:g.41296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2749A>G
ENST00000515425.6:c.2853A>G MANE Select	ENSP00000423660.1:p.Leu951=
ENST00000675793.1:c.*2137A>G	ENSP00000502039.1:n.*2137A>G
ENST00000676056.1:c.*2363A>G	ENSP00000501827.1:n.*2363A>G
ENST00000323829.9:c.*2241A>G	ENSP00000313025.5:n.*2241A>G
ENST00000504517.5:c.2383A>G	ENSP00000421779.1:n.2383A>G
ENST00000504690.5:c.2853A>G	ENSP00000425627.1:p.Leu951=
ENST00000510779.1:c.1903A>G
ENST00000511307.5:c.*2633A>G	ENSP00000421420.1:n.*2633A>G
ENST00000512049.5:c.2832A>G	ENSP00000421860.1:p.Leu944=
ENST00000513604.5:c.*2241A>G	ENSP00000423111.1:n.*2241A>G
ENST00000515425.5:c.2853A>G	ENSP00000423660.1:p.Leu951=
NM_024577.3:c.2853A>G , LRG_269t1:c.2853A>G	NP_078853.2:p.Leu951=
NM_024577.4:c.2853A>G MANE Select	NP_078853.2:p.Leu951=