Canonical Allele Identifier: CA447398407
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1754075026
MyVariant Identifiers: chr5:g.148406478G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026915G>C , CM000667.2:g.149026915G>C GRCh38
NC_000005.9:g.148406478G>C , CM000667.1:g.148406478G>C GRCh37
NC_000005.8:g.148386671G>C NCBI36
NG_007947.2:g.41260C>G , LRG_269:g.41260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2713C>G
ENST00000515425.6:c.2817C>G MANE Select ENSP00000423660.1:p.Gly939=
ENST00000675793.1:c.*2101C>G ENSP00000502039.1:n.*2101C>G
ENST00000676056.1:c.*2327C>G ENSP00000501827.1:n.*2327C>G
ENST00000323829.9:c.*2205C>G ENSP00000313025.5:n.*2205C>G
ENST00000504517.5:c.2347C>G ENSP00000421779.1:n.2347C>G
ENST00000504690.5:c.2817C>G ENSP00000425627.1:p.Gly939=
ENST00000510779.1:c.1867C>G
ENST00000511307.5:c.*2597C>G ENSP00000421420.1:n.*2597C>G
ENST00000512049.5:c.2796C>G ENSP00000421860.1:p.Gly932=
ENST00000513604.5:c.*2205C>G ENSP00000423111.1:n.*2205C>G
ENST00000515425.5:c.2817C>G ENSP00000423660.1:p.Gly939=
NM_024577.3:c.2817C>G , LRG_269t1:c.2817C>G NP_078853.2:p.Gly939=
NM_024577.4:c.2817C>G MANE Select NP_078853.2:p.Gly939=