Canonical Allele Identifier: CA447111365
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148388559T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008996T>G , CM000667.2:g.149008996T>G GRCh38
NC_000005.9:g.148388559T>G , CM000667.1:g.148388559T>G GRCh37
NC_000005.8:g.148368752T>G NCBI36
NG_007947.2:g.59179A>C , LRG_269:g.59179A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.3229A>C
ENST00000515425.6:c.3333A>C MANE Select ENSP00000423660.1:p.Gly1111=
ENST00000675793.1:c.*2617A>C ENSP00000502039.1:n.*2617A>C
ENST00000323829.9:c.*2721A>C ENSP00000313025.5:n.*2721A>C
ENST00000504517.5:c.2863A>C ENSP00000421779.1:n.2863A>C
ENST00000504690.5:c.3333A>C ENSP00000425627.1:p.Gly1111=
ENST00000510779.1:c.2383A>C
ENST00000512049.5:c.3312A>C ENSP00000421860.1:p.Gly1104=
ENST00000515425.5:c.3333A>C ENSP00000423660.1:p.Gly1111=
NM_024577.3:c.3333A>C , LRG_269t1:c.3333A>C NP_078853.2:p.Gly1111=
NM_024577.4:c.3333A>C MANE Select NP_078853.2:p.Gly1111=