Canonical Allele Identifier: CA447399534
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407395T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027832T>G , CM000667.2:g.149027832T>G GRCh38
NC_000005.9:g.148407395T>G , CM000667.1:g.148407395T>G GRCh37
NC_000005.8:g.148387588T>G NCBI36
NG_007947.2:g.40343A>C , LRG_269:g.40343A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.1796A>C
ENST00000515425.6:c.1900A>C MANE Select ENSP00000423660.1:p.Arg634=
ENST00000675793.1:c.*1184A>C ENSP00000502039.1:n.*1184A>C
ENST00000676056.1:c.*1410A>C ENSP00000501827.1:n.*1410A>C
ENST00000323829.9:c.*1288A>C ENSP00000313025.5:n.*1288A>C
ENST00000504517.5:c.1430A>C ENSP00000421779.1:n.1430A>C
ENST00000504690.5:c.1900A>C ENSP00000425627.1:p.Arg634=
ENST00000510779.1:c.950A>C
ENST00000511307.5:c.*1680A>C ENSP00000421420.1:n.*1680A>C
ENST00000512049.5:c.1879A>C ENSP00000421860.1:p.Arg627=
ENST00000513604.5:c.*1288A>C ENSP00000423111.1:n.*1288A>C
ENST00000515425.5:c.1900A>C ENSP00000423660.1:p.Arg634=
NM_024577.3:c.1900A>C , LRG_269t1:c.1900A>C NP_078853.2:p.Arg634=
NM_024577.4:c.1900A>C MANE Select NP_078853.2:p.Arg634=