Canonical Allele Identifier: CA447108034

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026697-G-A
• COSMIC: COSM4159617 ; COSM4159618
• MyVariant Identifiers: chr5:g.148406260G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026697G>A , CM000667.2:g.149026697G>A	GRCh38
NC_000005.9:g.148406260G>A , CM000667.1:g.148406260G>A	GRCh37
NC_000005.8:g.148386453G>A	NCBI36
NG_007947.2:g.41478C>T , LRG_269:g.41478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2824C>T
ENST00000515425.6:c.2928C>T MANE Select	ENSP00000423660.1:p.Asn976=
ENST00000675793.1:c.*2212C>T	ENSP00000502039.1:n.*2212C>T
ENST00000676056.1:c.*2438C>T	ENSP00000501827.1:n.*2438C>T
ENST00000323829.9:c.*2316C>T	ENSP00000313025.5:n.*2316C>T
ENST00000504517.5:c.2458C>T	ENSP00000421779.1:n.2458C>T
ENST00000504690.5:c.2928C>T	ENSP00000425627.1:p.Asn976=
ENST00000510779.1:c.1978C>T
ENST00000511307.5:c.*2815C>T	ENSP00000421420.1:n.*2815C>T
ENST00000512049.5:c.2907C>T	ENSP00000421860.1:p.Asn969=
ENST00000513604.5:c.*2423C>T	ENSP00000423111.1:n.*2423C>T
ENST00000515425.5:c.2928C>T	ENSP00000423660.1:p.Asn976=
NM_024577.3:c.2928C>T , LRG_269t1:c.2928C>T	NP_078853.2:p.Asn976=
NM_024577.4:c.2928C>T MANE Select	NP_078853.2:p.Asn976=