Canonical Allele Identifier: CA1590312206

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026888C= , CM000667.2:g.149026888C=	GRCh38
NC_000005.9:g.148406451C= , CM000667.1:g.148406451C=	GRCh37
NC_000005.8:g.148386644C=	NCBI36
NG_007947.2:g.41287G= , LRG_269:g.41287G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2740G=
ENST00000515425.6:c.2844G= MANE Select	ENSP00000423660.1:p.Leu948=
ENST00000675793.1:c.*2128G=	ENSP00000502039.1:n.*2128G=
ENST00000676056.1:c.*2354G=	ENSP00000501827.1:n.*2354G=
ENST00000323829.9:c.*2232G=	ENSP00000313025.5:n.*2232G=
ENST00000504517.5:c.2374G=	ENSP00000421779.1:n.2374G=
ENST00000504690.5:c.2844G=	ENSP00000425627.1:p.Leu948=
ENST00000510779.1:c.1894G=
ENST00000511307.5:c.*2624G=	ENSP00000421420.1:n.*2624G=
ENST00000512049.5:c.2823G=	ENSP00000421860.1:p.Leu941=
ENST00000513604.5:c.*2232G=	ENSP00000423111.1:n.*2232G=
ENST00000515425.5:c.2844G=	ENSP00000423660.1:p.Leu948=
NM_024577.3:c.2844G= , LRG_269t1:c.2844G=	NP_078853.2:p.Leu948=
NM_024577.4:c.2844G= MANE Select	NP_078853.2:p.Leu948=