Canonical Allele Identifier: CA447111238
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148388541C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008978C>T , CM000667.2:g.149008978C>T GRCh38
NC_000005.9:g.148388541C>T , CM000667.1:g.148388541C>T GRCh37
NC_000005.8:g.148368734C>T NCBI36
NG_007947.2:g.59197G>A , LRG_269:g.59197G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3247G>A
ENST00000515425.6:c.3351G>A MANE Select ENSP00000423660.1:p.Arg1117=
ENST00000675793.1:c.*2635G>A ENSP00000502039.1:n.*2635G>A
ENST00000323829.9:c.*2739G>A ENSP00000313025.5:n.*2739G>A
ENST00000504517.5:c.2881G>A ENSP00000421779.1:n.2881G>A
ENST00000504690.5:c.3351G>A ENSP00000425627.1:p.Arg1117=
ENST00000510779.1:c.2401G>A
ENST00000512049.5:c.3330G>A ENSP00000421860.1:p.Arg1110=
ENST00000515229.5:n.13G>A
ENST00000515425.5:c.3351G>A ENSP00000423660.1:p.Arg1117=
NM_024577.3:c.3351G>A , LRG_269t1:c.3351G>A NP_078853.2:p.Arg1117=
NM_024577.4:c.3351G>A MANE Select NP_078853.2:p.Arg1117=