Canonical Allele Identifier: CA3498762

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 647436
• ClinVar RCV Id: RCV000801948 ; RCV001173835 ; RCV002261214 ; RCV002325543
• dbSNP Id: rs200801053
• ExAC: 5:148388560 C / A
• gnomAD v2: 5-148388560-C-A
• gnomAD v3: 5-149008997-C-A
• gnomAD v4: 5-149008997-C-A
• MyVariant Identifiers: chr5:g.148388560C>A (hg19) ; chr5:g.149008997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008997C>A , CM000667.2:g.149008997C>A	GRCh38
NC_000005.9:g.148388560C>A , CM000667.1:g.148388560C>A	GRCh37
NC_000005.8:g.148368753C>A	NCBI36
NG_007947.2:g.59178G>T , LRG_269:g.59178G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.3228G>T
ENST00000515425.6:c.3332G>T MANE Select	ENSP00000423660.1:p.Gly1111Val
ENST00000675793.1:c.*2616G>T	ENSP00000502039.1:n.*2616G>T
ENST00000323829.9:c.*2720G>T	ENSP00000313025.5:n.*2720G>T
ENST00000504517.5:c.2862G>T	ENSP00000421779.1:n.2862G>T
ENST00000504690.5:c.3332G>T	ENSP00000425627.1:p.Gly1111Val
ENST00000510779.1:c.2382G>T
ENST00000512049.5:c.3311G>T	ENSP00000421860.1:p.Gly1104Val
ENST00000515425.5:c.3332G>T	ENSP00000423660.1:p.Gly1111Val
NM_024577.3:c.3332G>T , LRG_269t1:c.3332G>T	NP_078853.2:p.Gly1111Val
NM_024577.4:c.3332G>T MANE Select	NP_078853.2:p.Gly1111Val