Canonical Allele Identifier: CA1590312680
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027949C= , CM000667.2:g.149027949C= GRCh38
NC_000005.9:g.148407512C= , CM000667.1:g.148407512C= GRCh37
NC_000005.8:g.148387705C= NCBI36
NG_007947.2:g.40226G= , LRG_269:g.40226G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1679G=
ENST00000515425.6:c.1783G= MANE Select ENSP00000423660.1:p.Ala595=
ENST00000675793.1:c.*1067G= ENSP00000502039.1:n.*1067G=
ENST00000676056.1:c.*1293G= ENSP00000501827.1:n.*1293G=
ENST00000323829.9:c.*1171G= ENSP00000313025.5:n.*1171G=
ENST00000504517.5:c.1313G= ENSP00000421779.1:n.1313G=
ENST00000504690.5:c.1783G= ENSP00000425627.1:p.Ala595=
ENST00000510779.1:c.833G=
ENST00000511307.5:c.*1563G= ENSP00000421420.1:n.*1563G=
ENST00000512049.5:c.1762G= ENSP00000421860.1:p.Ala588=
ENST00000513604.5:c.*1171G= ENSP00000423111.1:n.*1171G=
ENST00000515425.5:c.1783G= ENSP00000423660.1:p.Ala595=
NM_024577.3:c.1783G= , LRG_269t1:c.1783G= NP_078853.2:p.Ala595=
NM_024577.4:c.1783G= MANE Select NP_078853.2:p.Ala595=