Canonical Allele Identifier: CA361666899

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407110A>T (hg19) ; chr5:g.149027547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027547A>T , CM000667.2:g.149027547A>T	GRCh38
NC_000005.9:g.148407110A>T , CM000667.1:g.148407110A>T	GRCh37
NC_000005.8:g.148387303A>T	NCBI36
NG_007947.2:g.40628T>A , LRG_269:g.40628T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2081T>A
ENST00000515425.6:c.2185T>A MANE Select	ENSP00000423660.1:p.Trp729Arg
ENST00000675793.1:c.*1469T>A	ENSP00000502039.1:n.*1469T>A
ENST00000676056.1:c.*1695T>A	ENSP00000501827.1:n.*1695T>A
ENST00000323829.9:c.*1573T>A	ENSP00000313025.5:n.*1573T>A
ENST00000504517.5:c.1715T>A	ENSP00000421779.1:n.1715T>A
ENST00000504690.5:c.2185T>A	ENSP00000425627.1:p.Trp729Arg
ENST00000510779.1:c.1235T>A
ENST00000511307.5:c.*1965T>A	ENSP00000421420.1:n.*1965T>A
ENST00000512049.5:c.2164T>A	ENSP00000421860.1:p.Trp722Arg
ENST00000513604.5:c.*1573T>A	ENSP00000423111.1:n.*1573T>A
ENST00000515425.5:c.2185T>A	ENSP00000423660.1:p.Trp729Arg
NM_024577.3:c.2185T>A , LRG_269t1:c.2185T>A	NP_078853.2:p.Trp729Arg
NM_024577.4:c.2185T>A MANE Select	NP_078853.2:p.Trp729Arg