Canonical Allele Identifier: CA447110919
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148388457A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008894A>C , CM000667.2:g.149008894A>C GRCh38
NC_000005.9:g.148388457A>C , CM000667.1:g.148388457A>C GRCh37
NC_000005.8:g.148368650A>C NCBI36
NG_007947.2:g.59281T>G , LRG_269:g.59281T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.3331T>G
ENST00000515425.6:c.3435T>G MANE Select ENSP00000423660.1:p.Ala1145=
ENST00000675793.1:c.*2719T>G ENSP00000502039.1:n.*2719T>G
ENST00000323829.9:c.*2823T>G ENSP00000313025.5:n.*2823T>G
ENST00000504517.5:c.2965T>G ENSP00000421779.1:n.2965T>G
ENST00000504690.5:c.3435T>G ENSP00000425627.1:p.Ala1145=
ENST00000510779.1:c.2485T>G
ENST00000512049.5:c.3414T>G ENSP00000421860.1:p.Ala1138=
ENST00000515229.5:n.97T>G
ENST00000515425.5:c.3435T>G ENSP00000423660.1:p.Ala1145=
NM_024577.3:c.3435T>G , LRG_269t1:c.3435T>G NP_078853.2:p.Ala1145=
NM_024577.4:c.3435T>G MANE Select NP_078853.2:p.Ala1145=