Canonical Allele Identifier: CA447107963
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148406158A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026595A>T , CM000667.2:g.149026595A>T GRCh38
NC_000005.9:g.148406158A>T , CM000667.1:g.148406158A>T GRCh37
NC_000005.8:g.148386351A>T NCBI36
NG_007947.2:g.41580T>A , LRG_269:g.41580T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2926T>A
ENST00000515425.6:c.3030T>A MANE Select ENSP00000423660.1:p.Leu1010=
ENST00000675793.1:c.*2314T>A ENSP00000502039.1:n.*2314T>A
ENST00000676056.1:c.*2540T>A ENSP00000501827.1:n.*2540T>A
ENST00000323829.9:c.*2418T>A ENSP00000313025.5:n.*2418T>A
ENST00000504517.5:c.2560T>A ENSP00000421779.1:n.2560T>A
ENST00000504690.5:c.3030T>A ENSP00000425627.1:p.Leu1010=
ENST00000510779.1:c.2080T>A
ENST00000511307.5:c.*2917T>A ENSP00000421420.1:n.*2917T>A
ENST00000512049.5:c.3009T>A ENSP00000421860.1:p.Leu1003=
ENST00000513604.5:c.*2525T>A ENSP00000423111.1:n.*2525T>A
ENST00000515425.5:c.3030T>A ENSP00000423660.1:p.Leu1010=
NM_024577.3:c.3030T>A , LRG_269t1:c.3030T>A NP_078853.2:p.Leu1010=
NM_024577.4:c.3030T>A MANE Select NP_078853.2:p.Leu1010=