Canonical Allele Identifier: CA447394988

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148386609G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007046G>A , CM000667.2:g.149007046G>A	GRCh38
NC_000005.9:g.148386609G>A , CM000667.1:g.148386609G>A	GRCh37
NC_000005.8:g.148366802G>A	NCBI36
NG_007947.2:g.61129C>T , LRG_269:g.61129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4363C>T
ENST00000515425.6:c.3510C>T MANE Select	ENSP00000423660.1:p.His1170=
ENST00000675793.1:c.*4567C>T	ENSP00000502039.1:n.*4567C>T
ENST00000323829.9:c.*2898C>T	ENSP00000313025.5:n.*2898C>T
ENST00000502274.1:c.96C>T	ENSP00000421092.1:p.His32=
ENST00000504517.5:c.3032C>T	ENSP00000421779.1:n.3032C>T
ENST00000504690.5:c.3510C>T	ENSP00000425627.1:p.His1170=
ENST00000510350.1:n.66C>T
ENST00000510779.1:c.2560C>T
ENST00000512049.5:c.3489C>T	ENSP00000421860.1:p.His1163=
ENST00000515229.5:n.172C>T
ENST00000515425.5:c.3510C>T	ENSP00000423660.1:p.His1170=
NM_024577.3:c.3510C>T , LRG_269t1:c.3510C>T	NP_078853.2:p.His1170=
NM_024577.4:c.3510C>T MANE Select	NP_078853.2:p.His1170=