Canonical Allele Identifier: CA447110893
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148388445G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008882G>C , CM000667.2:g.149008882G>C GRCh38
NC_000005.9:g.148388445G>C , CM000667.1:g.148388445G>C GRCh37
NC_000005.8:g.148368638G>C NCBI36
NG_007947.2:g.59293C>G , LRG_269:g.59293C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3343C>G
ENST00000515425.6:c.3447C>G MANE Select ENSP00000423660.1:p.Ala1149=
ENST00000675793.1:c.*2731C>G ENSP00000502039.1:n.*2731C>G
ENST00000323829.9:c.*2835C>G ENSP00000313025.5:n.*2835C>G
ENST00000504517.5:c.2977C>G ENSP00000421779.1:n.2977C>G
ENST00000504690.5:c.3447C>G ENSP00000425627.1:p.Ala1149=
ENST00000510779.1:c.2497C>G
ENST00000512049.5:c.3426C>G ENSP00000421860.1:p.Ala1142=
ENST00000515229.5:n.109C>G
ENST00000515425.5:c.3447C>G ENSP00000423660.1:p.Ala1149=
NM_024577.3:c.3447C>G , LRG_269t1:c.3447C>G NP_078853.2:p.Ala1149=
NM_024577.4:c.3447C>G MANE Select NP_078853.2:p.Ala1149=