Canonical Allele Identifier: CA334114

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 188129
• ClinVar RCV Id: RCV000167994 ; RCV000297914 ; RCV000336302 ; RCV001174042 ; RCV002321674
• dbSNP Id: rs149762843
• ExAC: 5:148442555 G / A
• gnomAD v2: 5-148442555-G-A
• gnomAD v3: 5-149062992-G-A
• gnomAD v4: 5-149062992-G-A
• MyVariant Identifiers: chr5:g.148442555G>A (hg19) ; chr5:g.149062992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149062992G>A , CM000667.2:g.149062992G>A	GRCh38
NC_000005.9:g.148442555G>A , CM000667.1:g.148442555G>A	GRCh37
NC_000005.8:g.148422748G>A	NCBI36
NG_007947.2:g.5183C>T , LRG_269:g.5183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.31C>T MANE Select	ENSP00000423660.1:p.Arg11Trp
ENST00000674983.1:c.31C>T	ENSP00000502387.1:p.Arg11Trp
ENST00000675793.1:c.31C>T	ENSP00000502039.1:p.Arg11Trp
ENST00000676056.1:c.31C>T	ENSP00000501827.1:p.Arg11Trp
ENST00000323829.9:c.31C>T	ENSP00000313025.5:p.Arg11Trp
ENST00000504091.1:n.67C>T
ENST00000504690.5:c.31C>T	ENSP00000425627.1:p.Arg11Trp
ENST00000511307.5:c.31C>T	ENSP00000421420.1:p.Arg11Trp
ENST00000511949.5:n.71C>T
ENST00000512049.5:c.31C>T	ENSP00000421860.1:p.Arg11Trp
ENST00000513604.5:c.31C>T	ENSP00000423111.1:p.Arg11Trp
ENST00000515425.5:c.31C>T	ENSP00000423660.1:p.Arg11Trp
NM_024577.3:c.31C>T , LRG_269t1:c.31C>T	NP_078853.2:p.Arg11Trp
NM_024577.4:c.31C>T MANE Select	NP_078853.2:p.Arg11Trp