Canonical Allele Identifier: CA339774
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21689
dbSNP Id: rs80338925

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027763C>T , CM000667.2:g.149027763C>T GRCh38
NC_000005.9:g.148407326C>T , CM000667.1:g.148407326C>T GRCh37
NC_000005.8:g.148387519C>T NCBI36
NG_007947.2:g.40412G>A , LRG_269:g.40412G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1865G>A
ENST00000515425.6:c.1969G>A MANE Select ENSP00000423660.1:p.Glu657Lys
ENST00000675793.1:c.*1253G>A ENSP00000502039.1:n.*1253G>A
ENST00000676056.1:c.*1479G>A ENSP00000501827.1:n.*1479G>A
ENST00000323829.9:c.*1357G>A ENSP00000313025.5:n.*1357G>A
ENST00000504517.5:c.1499G>A ENSP00000421779.1:n.1499G>A
ENST00000504690.5:c.1969G>A ENSP00000425627.1:p.Glu657Lys
ENST00000510779.1:c.1019G>A
ENST00000511307.5:c.*1749G>A ENSP00000421420.1:n.*1749G>A
ENST00000512049.5:c.1948G>A ENSP00000421860.1:p.Glu650Lys
ENST00000513604.5:c.*1357G>A ENSP00000423111.1:n.*1357G>A
ENST00000515425.5:c.1969G>A ENSP00000423660.1:p.Glu657Lys
NM_024577.3:c.1969G>A , LRG_269t1:c.1969G>A NP_078853.2:p.Glu657Lys
NM_024577.4:c.1969G>A MANE Select NP_078853.2:p.Glu657Lys