Canonical Allele Identifier: CA361675539

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 450991
• ClinVar RCV Id: RCV000521295 ; RCV000804704
• dbSNP Id: rs1554122847
• gnomAD v4: 5-149042727-C-A
• MyVariant Identifiers: chr5:g.148422290C>A (hg19) ; chr5:g.149042727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149042727C>A , CM000667.2:g.149042727C>A	GRCh38
NC_000005.9:g.148422290C>A , CM000667.1:g.148422290C>A	GRCh37
NC_000005.8:g.148402483C>A	NCBI36
NG_007947.2:g.25448G>T , LRG_269:g.25448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.444G>T
ENST00000515425.6:c.496G>T MANE Select	ENSP00000423660.1:p.Glu166Ter
ENST00000674983.1:c.496G>T	ENSP00000502387.1:p.Glu166Ter
ENST00000675793.1:c.496G>T	ENSP00000502039.1:p.Glu166Ter
ENST00000676056.1:c.496G>T	ENSP00000501827.1:p.Glu166Ter
ENST00000676367.1:n.112G>T
ENST00000323829.9:c.496G>T	ENSP00000313025.5:p.Glu166Ter
ENST00000503071.1:n.21G>T
ENST00000504690.5:c.496G>T	ENSP00000425627.1:p.Glu166Ter
ENST00000511307.5:c.*276G>T	ENSP00000421420.1:n.*276G>T
ENST00000511949.5:n.566G>T
ENST00000512049.5:c.475G>T	ENSP00000421860.1:p.Glu159Ter
ENST00000513604.5:c.496G>T	ENSP00000423111.1:p.Glu166Ter
ENST00000515425.5:c.496G>T	ENSP00000423660.1:p.Glu166Ter
NM_024577.3:c.496G>T , LRG_269t1:c.496G>T	NP_078853.2:p.Glu166Ter
NM_024577.4:c.496G>T MANE Select	NP_078853.2:p.Glu166Ter