Canonical Allele Identifier: CA447107872

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406143A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026580A>G , CM000667.2:g.149026580A>G	GRCh38
NC_000005.9:g.148406143A>G , CM000667.1:g.148406143A>G	GRCh37
NC_000005.8:g.148386336A>G	NCBI36
NG_007947.2:g.41595T>C , LRG_269:g.41595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2941T>C
ENST00000515425.6:c.3045T>C MANE Select	ENSP00000423660.1:p.Asn1015=
ENST00000675793.1:c.*2329T>C	ENSP00000502039.1:n.*2329T>C
ENST00000676056.1:c.*2555T>C	ENSP00000501827.1:n.*2555T>C
ENST00000323829.9:c.*2433T>C	ENSP00000313025.5:n.*2433T>C
ENST00000504517.5:c.2575T>C	ENSP00000421779.1:n.2575T>C
ENST00000504690.5:c.3045T>C	ENSP00000425627.1:p.Asn1015=
ENST00000510779.1:c.2095T>C
ENST00000511307.5:c.*2932T>C	ENSP00000421420.1:n.*2932T>C
ENST00000512049.5:c.3024T>C	ENSP00000421860.1:p.Asn1008=
ENST00000513604.5:c.*2540T>C	ENSP00000423111.1:n.*2540T>C
ENST00000515425.5:c.3045T>C	ENSP00000423660.1:p.Asn1015=
NM_024577.3:c.3045T>C , LRG_269t1:c.3045T>C	NP_078853.2:p.Asn1015=
NM_024577.4:c.3045T>C MANE Select	NP_078853.2:p.Asn1015=