Canonical Allele Identifier: CA447399344
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407117G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027554G>C , CM000667.2:g.149027554G>C GRCh38
NC_000005.9:g.148407117G>C , CM000667.1:g.148407117G>C GRCh37
NC_000005.8:g.148387310G>C NCBI36
NG_007947.2:g.40621C>G , LRG_269:g.40621C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.2074C>G
ENST00000515425.6:c.2178C>G MANE Select ENSP00000423660.1:p.Ser726=
ENST00000675793.1:c.*1462C>G ENSP00000502039.1:n.*1462C>G
ENST00000676056.1:c.*1688C>G ENSP00000501827.1:n.*1688C>G
ENST00000323829.9:c.*1566C>G ENSP00000313025.5:n.*1566C>G
ENST00000504517.5:c.1708C>G ENSP00000421779.1:n.1708C>G
ENST00000504690.5:c.2178C>G ENSP00000425627.1:p.Ser726=
ENST00000510779.1:c.1228C>G
ENST00000511307.5:c.*1958C>G ENSP00000421420.1:n.*1958C>G
ENST00000512049.5:c.2157C>G ENSP00000421860.1:p.Ser719=
ENST00000513604.5:c.*1566C>G ENSP00000423111.1:n.*1566C>G
ENST00000515425.5:c.2178C>G ENSP00000423660.1:p.Ser726=
NM_024577.3:c.2178C>G , LRG_269t1:c.2178C>G NP_078853.2:p.Ser726=
NM_024577.4:c.2178C>G MANE Select NP_078853.2:p.Ser726=