Canonical Allele Identifier: CA1590317325
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149038382A= , CM000667.2:g.149038382A= GRCh38
NC_000005.9:g.148417945A= , CM000667.1:g.148417945A= GRCh37
NC_000005.8:g.148398138A= NCBI36
NG_007947.2:g.29793T= , LRG_269:g.29793T=

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.804T=
ENST00000515425.6:c.914T= MANE Select ENSP00000423660.1:p.Leu305=
ENST00000674655.1:c.176T= ENSP00000502840.1:p.Leu59=
ENST00000674983.1:c.*172T= ENSP00000502387.1:n.*172T=
ENST00000675793.1:c.914T= ENSP00000502039.1:p.Leu305=
ENST00000676056.1:c.*172T= ENSP00000501827.1:n.*172T=
ENST00000323829.9:c.*172T= ENSP00000313025.5:n.*172T=
ENST00000503071.1:n.381T=
ENST00000504517.5:c.314T= ENSP00000421779.1:p.Leu105=
ENST00000504690.5:c.914T= ENSP00000425627.1:p.Leu305=
ENST00000511307.5:c.*694T= ENSP00000421420.1:n.*694T=
ENST00000512049.5:c.893T= ENSP00000421860.1:p.Leu298=
ENST00000513604.5:c.*172T= ENSP00000423111.1:n.*172T=
ENST00000515425.5:c.914T= ENSP00000423660.1:p.Leu305=
NM_024577.3:c.914T= , LRG_269t1:c.914T= NP_078853.2:p.Leu305=
NM_024577.4:c.914T= MANE Select NP_078853.2:p.Leu305=