Canonical Allele Identifier: CA447110929

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 798708
• ClinVar RCV Id: RCV001449322
• dbSNP Id: rs1580888944
• MyVariant Identifiers: chr5:g.148388460C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008897C>T , CM000667.2:g.149008897C>T	GRCh38
NC_000005.9:g.148388460C>T , CM000667.1:g.148388460C>T	GRCh37
NC_000005.8:g.148368653C>T	NCBI36
NG_007947.2:g.59278G>A , LRG_269:g.59278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3328G>A
ENST00000515425.6:c.3432G>A MANE Select	ENSP00000423660.1:p.Lys1144=
ENST00000675793.1:c.*2716G>A	ENSP00000502039.1:n.*2716G>A
ENST00000323829.9:c.*2820G>A	ENSP00000313025.5:n.*2820G>A
ENST00000504517.5:c.2962G>A	ENSP00000421779.1:n.2962G>A
ENST00000504690.5:c.3432G>A	ENSP00000425627.1:p.Lys1144=
ENST00000510779.1:c.2482G>A
ENST00000512049.5:c.3411G>A	ENSP00000421860.1:p.Lys1137=
ENST00000515229.5:n.94G>A
ENST00000515425.5:c.3432G>A	ENSP00000423660.1:p.Lys1144=
NM_024577.3:c.3432G>A , LRG_269t1:c.3432G>A	NP_078853.2:p.Lys1144=
NM_024577.4:c.3432G>A MANE Select	NP_078853.2:p.Lys1144=