Canonical Allele Identifier: CA361665307

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1754069261
• gnomAD v3: 5-149026697-G-C
• gnomAD v4: 5-149026697-G-C
• MyVariant Identifiers: chr5:g.148406260G>C (hg19) ; chr5:g.149026697G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2824C>G
ENST00000515425.6:c.2928C>G MANE Select	ENSP00000423660.1:p.Asn976Lys
ENST00000675793.1:c.*2212C>G	ENSP00000502039.1:n.*2212C>G
ENST00000676056.1:c.*2438C>G	ENSP00000501827.1:n.*2438C>G
ENST00000323829.9:c.*2316C>G	ENSP00000313025.5:n.*2316C>G
ENST00000504517.5:c.2458C>G	ENSP00000421779.1:n.2458C>G
ENST00000504690.5:c.2928C>G	ENSP00000425627.1:p.Asn976Lys
ENST00000510779.1:c.1978C>G
ENST00000511307.5:c.*2815C>G	ENSP00000421420.1:n.*2815C>G
ENST00000512049.5:c.2907C>G	ENSP00000421860.1:p.Asn969Lys
ENST00000513604.5:c.*2423C>G	ENSP00000423111.1:n.*2423C>G
ENST00000515425.5:c.2928C>G	ENSP00000423660.1:p.Asn976Lys
NM_024577.3:c.2928C>G , LRG_269t1:c.2928C>G	NP_078853.2:p.Asn976Lys
NM_024577.4:c.2928C>G MANE Select	NP_078853.2:p.Asn976Lys