Canonical Allele Identifier: CA361667334

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407316T>G (hg19) ; chr5:g.149027753T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027753T>G , CM000667.2:g.149027753T>G	GRCh38
NC_000005.9:g.148407316T>G , CM000667.1:g.148407316T>G	GRCh37
NC_000005.8:g.148387509T>G	NCBI36
NG_007947.2:g.40422A>C , LRG_269:g.40422A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1875A>C
ENST00000515425.6:c.1979A>C MANE Select	ENSP00000423660.1:p.Gln660Pro
ENST00000675793.1:c.*1263A>C	ENSP00000502039.1:n.*1263A>C
ENST00000676056.1:c.*1489A>C	ENSP00000501827.1:n.*1489A>C
ENST00000323829.9:c.*1367A>C	ENSP00000313025.5:n.*1367A>C
ENST00000504517.5:c.1509A>C	ENSP00000421779.1:n.1509A>C
ENST00000504690.5:c.1979A>C	ENSP00000425627.1:p.Gln660Pro
ENST00000510779.1:c.1029A>C
ENST00000511307.5:c.*1759A>C	ENSP00000421420.1:n.*1759A>C
ENST00000512049.5:c.1958A>C	ENSP00000421860.1:p.Gln653Pro
ENST00000513604.5:c.*1367A>C	ENSP00000423111.1:n.*1367A>C
ENST00000515425.5:c.1979A>C	ENSP00000423660.1:p.Gln660Pro
NM_024577.3:c.1979A>C , LRG_269t1:c.1979A>C	NP_078853.2:p.Gln660Pro
NM_024577.4:c.1979A>C MANE Select	NP_078853.2:p.Gln660Pro