Canonical Allele Identifier: CA361665045

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1799285
• ClinVar RCV Id: RCV002444132
• MyVariant Identifiers: chr5:g.148406135C>T (hg19) ; chr5:g.149026572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026572C>T , CM000667.2:g.149026572C>T	GRCh38
NC_000005.9:g.148406135C>T , CM000667.1:g.148406135C>T	GRCh37
NC_000005.8:g.148386328C>T	NCBI36
NG_007947.2:g.41603G>A , LRG_269:g.41603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2949G>A
ENST00000515425.6:c.3053G>A MANE Select	ENSP00000423660.1:p.Arg1018Lys
ENST00000675793.1:c.*2337G>A	ENSP00000502039.1:n.*2337G>A
ENST00000676056.1:c.*2563G>A	ENSP00000501827.1:n.*2563G>A
ENST00000323829.9:c.*2441G>A	ENSP00000313025.5:n.*2441G>A
ENST00000504517.5:c.2583G>A	ENSP00000421779.1:n.2583G>A
ENST00000504690.5:c.3053G>A	ENSP00000425627.1:p.Arg1018Lys
ENST00000510779.1:c.2103G>A
ENST00000511307.5:c.*2940G>A	ENSP00000421420.1:n.*2940G>A
ENST00000512049.5:c.3032G>A	ENSP00000421860.1:p.Arg1011Lys
ENST00000513604.5:c.*2548G>A	ENSP00000423111.1:n.*2548G>A
ENST00000515425.5:c.3053G>A	ENSP00000423660.1:p.Arg1018Lys
NM_024577.3:c.3053G>A , LRG_269t1:c.3053G>A	NP_078853.2:p.Arg1018Lys
NM_024577.4:c.3053G>A MANE Select	NP_078853.2:p.Arg1018Lys