Canonical Allele Identifier: CA361667157

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407232A>T (hg19) ; chr5:g.149027669A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027669A>T , CM000667.2:g.149027669A>T	GRCh38
NC_000005.9:g.148407232A>T , CM000667.1:g.148407232A>T	GRCh37
NC_000005.8:g.148387425A>T	NCBI36
NG_007947.2:g.40506T>A , LRG_269:g.40506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1959T>A
ENST00000515425.6:c.2063T>A MANE Select	ENSP00000423660.1:p.Leu688His
ENST00000675793.1:c.*1347T>A	ENSP00000502039.1:n.*1347T>A
ENST00000676056.1:c.*1573T>A	ENSP00000501827.1:n.*1573T>A
ENST00000323829.9:c.*1451T>A	ENSP00000313025.5:n.*1451T>A
ENST00000504517.5:c.1593T>A	ENSP00000421779.1:n.1593T>A
ENST00000504690.5:c.2063T>A	ENSP00000425627.1:p.Leu688His
ENST00000510779.1:c.1113T>A
ENST00000511307.5:c.*1843T>A	ENSP00000421420.1:n.*1843T>A
ENST00000512049.5:c.2042T>A	ENSP00000421860.1:p.Leu681His
ENST00000513604.5:c.*1451T>A	ENSP00000423111.1:n.*1451T>A
ENST00000515425.5:c.2063T>A	ENSP00000423660.1:p.Leu688His
NM_024577.3:c.2063T>A , LRG_269t1:c.2063T>A	NP_078853.2:p.Leu688His
NM_024577.4:c.2063T>A MANE Select	NP_078853.2:p.Leu688His