Canonical Allele Identifier: CA447107987
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148406179C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026616C>T , CM000667.2:g.149026616C>T GRCh38
NC_000005.9:g.148406179C>T , CM000667.1:g.148406179C>T GRCh37
NC_000005.8:g.148386372C>T NCBI36
NG_007947.2:g.41559G>A , LRG_269:g.41559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2905G>A
ENST00000515425.6:c.3009G>A MANE Select ENSP00000423660.1:p.Leu1003=
ENST00000675793.1:c.*2293G>A ENSP00000502039.1:n.*2293G>A
ENST00000676056.1:c.*2519G>A ENSP00000501827.1:n.*2519G>A
ENST00000323829.9:c.*2397G>A ENSP00000313025.5:n.*2397G>A
ENST00000504517.5:c.2539G>A ENSP00000421779.1:n.2539G>A
ENST00000504690.5:c.3009G>A ENSP00000425627.1:p.Leu1003=
ENST00000510779.1:c.2059G>A
ENST00000511307.5:c.*2896G>A ENSP00000421420.1:n.*2896G>A
ENST00000512049.5:c.2988G>A ENSP00000421860.1:p.Leu996=
ENST00000513604.5:c.*2504G>A ENSP00000423111.1:n.*2504G>A
ENST00000515425.5:c.3009G>A ENSP00000423660.1:p.Leu1003=
NM_024577.3:c.3009G>A , LRG_269t1:c.3009G>A NP_078853.2:p.Leu1003=
NM_024577.4:c.3009G>A MANE Select NP_078853.2:p.Leu1003=