Canonical Allele Identifier: CA447111190

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388529C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008966C>G , CM000667.2:g.149008966C>G	GRCh38
NC_000005.9:g.148388529C>G , CM000667.1:g.148388529C>G	GRCh37
NC_000005.8:g.148368722C>G	NCBI36
NG_007947.2:g.59209G>C , LRG_269:g.59209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3259G>C
ENST00000515425.6:c.3363G>C MANE Select	ENSP00000423660.1:p.Ala1121=
ENST00000675793.1:c.*2647G>C	ENSP00000502039.1:n.*2647G>C
ENST00000323829.9:c.*2751G>C	ENSP00000313025.5:n.*2751G>C
ENST00000504517.5:c.2893G>C	ENSP00000421779.1:n.2893G>C
ENST00000504690.5:c.3363G>C	ENSP00000425627.1:p.Ala1121=
ENST00000510779.1:c.2413G>C
ENST00000512049.5:c.3342G>C	ENSP00000421860.1:p.Ala1114=
ENST00000515229.5:n.25G>C
ENST00000515425.5:c.3363G>C	ENSP00000423660.1:p.Ala1121=
NM_024577.3:c.3363G>C , LRG_269t1:c.3363G>C	NP_078853.2:p.Ala1121=
NM_024577.4:c.3363G>C MANE Select	NP_078853.2:p.Ala1121=