Canonical Allele Identifier: CA447399552
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407414G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027851G>A , CM000667.2:g.149027851G>A GRCh38
NC_000005.9:g.148407414G>A , CM000667.1:g.148407414G>A GRCh37
NC_000005.8:g.148387607G>A NCBI36
NG_007947.2:g.40324C>T , LRG_269:g.40324C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.1777C>T
ENST00000515425.6:c.1881C>T MANE Select ENSP00000423660.1:p.Gly627=
ENST00000675793.1:c.*1165C>T ENSP00000502039.1:n.*1165C>T
ENST00000676056.1:c.*1391C>T ENSP00000501827.1:n.*1391C>T
ENST00000323829.9:c.*1269C>T ENSP00000313025.5:n.*1269C>T
ENST00000504517.5:c.1411C>T ENSP00000421779.1:n.1411C>T
ENST00000504690.5:c.1881C>T ENSP00000425627.1:p.Gly627=
ENST00000510779.1:c.931C>T
ENST00000511307.5:c.*1661C>T ENSP00000421420.1:n.*1661C>T
ENST00000512049.5:c.1860C>T ENSP00000421860.1:p.Gly620=
ENST00000513604.5:c.*1269C>T ENSP00000423111.1:n.*1269C>T
ENST00000515425.5:c.1881C>T ENSP00000423660.1:p.Gly627=
NM_024577.3:c.1881C>T , LRG_269t1:c.1881C>T NP_078853.2:p.Gly627=
NM_024577.4:c.1881C>T MANE Select NP_078853.2:p.Gly627=