Canonical Allele Identifier: CA361667445

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407370A>T (hg19) ; chr5:g.149027807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027807A>T , CM000667.2:g.149027807A>T	GRCh38
NC_000005.9:g.148407370A>T , CM000667.1:g.148407370A>T	GRCh37
NC_000005.8:g.148387563A>T	NCBI36
NG_007947.2:g.40368T>A , LRG_269:g.40368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1821T>A
ENST00000515425.6:c.1925T>A MANE Select	ENSP00000423660.1:p.Leu642Ter
ENST00000675793.1:c.*1209T>A	ENSP00000502039.1:n.*1209T>A
ENST00000676056.1:c.*1435T>A	ENSP00000501827.1:n.*1435T>A
ENST00000323829.9:c.*1313T>A	ENSP00000313025.5:n.*1313T>A
ENST00000504517.5:c.1455T>A	ENSP00000421779.1:n.1455T>A
ENST00000504690.5:c.1925T>A	ENSP00000425627.1:p.Leu642Ter
ENST00000510779.1:c.975T>A
ENST00000511307.5:c.*1705T>A	ENSP00000421420.1:n.*1705T>A
ENST00000512049.5:c.1904T>A	ENSP00000421860.1:p.Leu635Ter
ENST00000513604.5:c.*1313T>A	ENSP00000423111.1:n.*1313T>A
ENST00000515425.5:c.1925T>A	ENSP00000423660.1:p.Leu642Ter
NM_024577.3:c.1925T>A , LRG_269t1:c.1925T>A	NP_078853.2:p.Leu642Ter
NM_024577.4:c.1925T>A MANE Select	NP_078853.2:p.Leu642Ter