Canonical Allele Identifier: CA447111119
Gene: SH3TC2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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