Canonical Allele Identifier: CA447111289

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388550A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008987A>C , CM000667.2:g.149008987A>C	GRCh38
NC_000005.9:g.148388550A>C , CM000667.1:g.148388550A>C	GRCh37
NC_000005.8:g.148368743A>C	NCBI36
NG_007947.2:g.59188T>G , LRG_269:g.59188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3238T>G
ENST00000515425.6:c.3342T>G MANE Select	ENSP00000423660.1:p.Pro1114=
ENST00000675793.1:c.*2626T>G	ENSP00000502039.1:n.*2626T>G
ENST00000323829.9:c.*2730T>G	ENSP00000313025.5:n.*2730T>G
ENST00000504517.5:c.2872T>G	ENSP00000421779.1:n.2872T>G
ENST00000504690.5:c.3342T>G	ENSP00000425627.1:p.Pro1114=
ENST00000510779.1:c.2392T>G
ENST00000512049.5:c.3321T>G	ENSP00000421860.1:p.Pro1107=
ENST00000515229.5:n.4T>G
ENST00000515425.5:c.3342T>G	ENSP00000423660.1:p.Pro1114=
NM_024577.3:c.3342T>G , LRG_269t1:c.3342T>G	NP_078853.2:p.Pro1114=
NM_024577.4:c.3342T>G MANE Select	NP_078853.2:p.Pro1114=