Canonical Allele Identifier: CA361664721

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388543T>A (hg19) ; chr5:g.149008980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008980T>A , CM000667.2:g.149008980T>A	GRCh38
NC_000005.9:g.148388543T>A , CM000667.1:g.148388543T>A	GRCh37
NC_000005.8:g.148368736T>A	NCBI36
NG_007947.2:g.59195A>T , LRG_269:g.59195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3245A>T
ENST00000515425.6:c.3349A>T MANE Select	ENSP00000423660.1:p.Arg1117Trp
ENST00000675793.1:c.*2633A>T	ENSP00000502039.1:n.*2633A>T
ENST00000323829.9:c.*2737A>T	ENSP00000313025.5:n.*2737A>T
ENST00000504517.5:c.2879A>T	ENSP00000421779.1:n.2879A>T
ENST00000504690.5:c.3349A>T	ENSP00000425627.1:p.Arg1117Trp
ENST00000510779.1:c.2399A>T
ENST00000512049.5:c.3328A>T	ENSP00000421860.1:p.Arg1110Trp
ENST00000515229.5:n.11A>T
ENST00000515425.5:c.3349A>T	ENSP00000423660.1:p.Arg1117Trp
NM_024577.3:c.3349A>T , LRG_269t1:c.3349A>T	NP_078853.2:p.Arg1117Trp
NM_024577.4:c.3349A>T MANE Select	NP_078853.2:p.Arg1117Trp