Canonical Allele Identifier: CA361665241

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406229A>T (hg19) ; chr5:g.149026666A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026666A>T , CM000667.2:g.149026666A>T	GRCh38
NC_000005.9:g.148406229A>T , CM000667.1:g.148406229A>T	GRCh37
NC_000005.8:g.148386422A>T	NCBI36
NG_007947.2:g.41509T>A , LRG_269:g.41509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2855T>A
ENST00000515425.6:c.2959T>A MANE Select	ENSP00000423660.1:p.Trp987Arg
ENST00000675793.1:c.*2243T>A	ENSP00000502039.1:n.*2243T>A
ENST00000676056.1:c.*2469T>A	ENSP00000501827.1:n.*2469T>A
ENST00000323829.9:c.*2347T>A	ENSP00000313025.5:n.*2347T>A
ENST00000504517.5:c.2489T>A	ENSP00000421779.1:n.2489T>A
ENST00000504690.5:c.2959T>A	ENSP00000425627.1:p.Trp987Arg
ENST00000510779.1:c.2009T>A
ENST00000511307.5:c.*2846T>A	ENSP00000421420.1:n.*2846T>A
ENST00000512049.5:c.2938T>A	ENSP00000421860.1:p.Trp980Arg
ENST00000513604.5:c.*2454T>A	ENSP00000423111.1:n.*2454T>A
ENST00000515425.5:c.2959T>A	ENSP00000423660.1:p.Trp987Arg
NM_024577.3:c.2959T>A , LRG_269t1:c.2959T>A	NP_078853.2:p.Trp987Arg
NM_024577.4:c.2959T>A MANE Select	NP_078853.2:p.Trp987Arg