Canonical Allele Identifier: CA447111254

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388544T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008981T>G , CM000667.2:g.149008981T>G	GRCh38
NC_000005.9:g.148388544T>G , CM000667.1:g.148388544T>G	GRCh37
NC_000005.8:g.148368737T>G	NCBI36
NG_007947.2:g.59194A>C , LRG_269:g.59194A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3244A>C
ENST00000515425.6:c.3348A>C MANE Select	ENSP00000423660.1:p.Ala1116=
ENST00000675793.1:c.*2632A>C	ENSP00000502039.1:n.*2632A>C
ENST00000323829.9:c.*2736A>C	ENSP00000313025.5:n.*2736A>C
ENST00000504517.5:c.2878A>C	ENSP00000421779.1:n.2878A>C
ENST00000504690.5:c.3348A>C	ENSP00000425627.1:p.Ala1116=
ENST00000510779.1:c.2398A>C
ENST00000512049.5:c.3327A>C	ENSP00000421860.1:p.Ala1109=
ENST00000515229.5:n.10A>C
ENST00000515425.5:c.3348A>C	ENSP00000423660.1:p.Ala1116=
NM_024577.3:c.3348A>C , LRG_269t1:c.3348A>C	NP_078853.2:p.Ala1116=
NM_024577.4:c.3348A>C MANE Select	NP_078853.2:p.Ala1116=