Canonical Allele Identifier: CA447399424
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407237T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027674T>G , CM000667.2:g.149027674T>G GRCh38
NC_000005.9:g.148407237T>G , CM000667.1:g.148407237T>G GRCh37
NC_000005.8:g.148387430T>G NCBI36
NG_007947.2:g.40501A>C , LRG_269:g.40501A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.1954A>C
ENST00000515425.6:c.2058A>C MANE Select ENSP00000423660.1:p.Pro686=
ENST00000675793.1:c.*1342A>C ENSP00000502039.1:n.*1342A>C
ENST00000676056.1:c.*1568A>C ENSP00000501827.1:n.*1568A>C
ENST00000323829.9:c.*1446A>C ENSP00000313025.5:n.*1446A>C
ENST00000504517.5:c.1588A>C ENSP00000421779.1:n.1588A>C
ENST00000504690.5:c.2058A>C ENSP00000425627.1:p.Pro686=
ENST00000510779.1:c.1108A>C
ENST00000511307.5:c.*1838A>C ENSP00000421420.1:n.*1838A>C
ENST00000512049.5:c.2037A>C ENSP00000421860.1:p.Pro679=
ENST00000513604.5:c.*1446A>C ENSP00000423111.1:n.*1446A>C
ENST00000515425.5:c.2058A>C ENSP00000423660.1:p.Pro686=
NM_024577.3:c.2058A>C , LRG_269t1:c.2058A>C NP_078853.2:p.Pro686=
NM_024577.4:c.2058A>C MANE Select NP_078853.2:p.Pro686=