Canonical Allele Identifier: CA447111122

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388511C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008948C>G , CM000667.2:g.149008948C>G	GRCh38
NC_000005.9:g.148388511C>G , CM000667.1:g.148388511C>G	GRCh37
NC_000005.8:g.148368704C>G	NCBI36
NG_007947.2:g.59227G>C , LRG_269:g.59227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3277G>C
ENST00000515425.6:c.3381G>C MANE Select	ENSP00000423660.1:p.Arg1127=
ENST00000675793.1:c.*2665G>C	ENSP00000502039.1:n.*2665G>C
ENST00000323829.9:c.*2769G>C	ENSP00000313025.5:n.*2769G>C
ENST00000504517.5:c.2911G>C	ENSP00000421779.1:n.2911G>C
ENST00000504690.5:c.3381G>C	ENSP00000425627.1:p.Arg1127=
ENST00000510779.1:c.2431G>C
ENST00000512049.5:c.3360G>C	ENSP00000421860.1:p.Arg1120=
ENST00000515229.5:n.43G>C
ENST00000515425.5:c.3381G>C	ENSP00000423660.1:p.Arg1127=
NM_024577.3:c.3381G>C , LRG_269t1:c.3381G>C	NP_078853.2:p.Arg1127=
NM_024577.4:c.3381G>C MANE Select	NP_078853.2:p.Arg1127=