Canonical Allele Identifier: CA447399605
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407615T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149028052T>A , CM000667.2:g.149028052T>A GRCh38
NC_000005.9:g.148407615T>A , CM000667.1:g.148407615T>A GRCh37
NC_000005.8:g.148387808T>A NCBI36
NG_007947.2:g.40123A>T , LRG_269:g.40123A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.1576A>T
ENST00000515425.6:c.1680A>T MANE Select ENSP00000423660.1:p.Gly560=
ENST00000675793.1:c.*964A>T ENSP00000502039.1:n.*964A>T
ENST00000676056.1:c.*1190A>T ENSP00000501827.1:n.*1190A>T
ENST00000323829.9:c.*1068A>T ENSP00000313025.5:n.*1068A>T
ENST00000504517.5:c.1210A>T ENSP00000421779.1:n.1210A>T
ENST00000504690.5:c.1680A>T ENSP00000425627.1:p.Gly560=
ENST00000510779.1:c.730A>T
ENST00000511307.5:c.*1460A>T ENSP00000421420.1:n.*1460A>T
ENST00000512049.5:c.1659A>T ENSP00000421860.1:p.Gly553=
ENST00000513604.5:c.*1068A>T ENSP00000423111.1:n.*1068A>T
ENST00000515425.5:c.1680A>T ENSP00000423660.1:p.Gly560=
NM_024577.3:c.1680A>T , LRG_269t1:c.1680A>T NP_078853.2:p.Gly560=
NM_024577.4:c.1680A>T MANE Select NP_078853.2:p.Gly560=