Canonical Allele Identifier: CA361667709

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407499A>T (hg19) ; chr5:g.149027936A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027936A>T , CM000667.2:g.149027936A>T	GRCh38
NC_000005.9:g.148407499A>T , CM000667.1:g.148407499A>T	GRCh37
NC_000005.8:g.148387692A>T	NCBI36
NG_007947.2:g.40239T>A , LRG_269:g.40239T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1692T>A
ENST00000515425.6:c.1796T>A MANE Select	ENSP00000423660.1:p.Leu599Gln
ENST00000675793.1:c.*1080T>A	ENSP00000502039.1:n.*1080T>A
ENST00000676056.1:c.*1306T>A	ENSP00000501827.1:n.*1306T>A
ENST00000323829.9:c.*1184T>A	ENSP00000313025.5:n.*1184T>A
ENST00000504517.5:c.1326T>A	ENSP00000421779.1:n.1326T>A
ENST00000504690.5:c.1796T>A	ENSP00000425627.1:p.Leu599Gln
ENST00000510779.1:c.846T>A
ENST00000511307.5:c.*1576T>A	ENSP00000421420.1:n.*1576T>A
ENST00000512049.5:c.1775T>A	ENSP00000421860.1:p.Leu592Gln
ENST00000513604.5:c.*1184T>A	ENSP00000423111.1:n.*1184T>A
ENST00000515425.5:c.1796T>A	ENSP00000423660.1:p.Leu599Gln
NM_024577.3:c.1796T>A , LRG_269t1:c.1796T>A	NP_078853.2:p.Leu599Gln
NM_024577.4:c.1796T>A MANE Select	NP_078853.2:p.Leu599Gln