Canonical Allele Identifier: CA447399459
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407339G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027776G>T , CM000667.2:g.149027776G>T GRCh38
NC_000005.9:g.148407339G>T , CM000667.1:g.148407339G>T GRCh37
NC_000005.8:g.148387532G>T NCBI36
NG_007947.2:g.40399C>A , LRG_269:g.40399C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1852C>A
ENST00000515425.6:c.1956C>A MANE Select ENSP00000423660.1:p.Val652=
ENST00000675793.1:c.*1240C>A ENSP00000502039.1:n.*1240C>A
ENST00000676056.1:c.*1466C>A ENSP00000501827.1:n.*1466C>A
ENST00000323829.9:c.*1344C>A ENSP00000313025.5:n.*1344C>A
ENST00000504517.5:c.1486C>A ENSP00000421779.1:n.1486C>A
ENST00000504690.5:c.1956C>A ENSP00000425627.1:p.Val652=
ENST00000510779.1:c.1006C>A
ENST00000511307.5:c.*1736C>A ENSP00000421420.1:n.*1736C>A
ENST00000512049.5:c.1935C>A ENSP00000421860.1:p.Val645=
ENST00000513604.5:c.*1344C>A ENSP00000423111.1:n.*1344C>A
ENST00000515425.5:c.1956C>A ENSP00000423660.1:p.Val652=
NM_024577.3:c.1956C>A , LRG_269t1:c.1956C>A NP_078853.2:p.Val652=
NM_024577.4:c.1956C>A MANE Select NP_078853.2:p.Val652=