Canonical Allele Identifier: CA128983423

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1498898
• ClinVar RCV Id: RCV002035653
• dbSNP Id: rs978452363
• gnomAD v3: 5-149026674-T-C
• gnomAD v4: 5-149026674-T-C
• MyVariant Identifiers: chr5:g.148406237T>C (hg19) ; chr5:g.149026674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026674T>C , CM000667.2:g.149026674T>C	GRCh38
NC_000005.9:g.148406237T>C , CM000667.1:g.148406237T>C	GRCh37
NC_000005.8:g.148386430T>C	NCBI36
NG_007947.2:g.41501A>G , LRG_269:g.41501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2847A>G
ENST00000515425.6:c.2951A>G MANE Select	ENSP00000423660.1:p.His984Arg
ENST00000675793.1:c.*2235A>G	ENSP00000502039.1:n.*2235A>G
ENST00000676056.1:c.*2461A>G	ENSP00000501827.1:n.*2461A>G
ENST00000323829.9:c.*2339A>G	ENSP00000313025.5:n.*2339A>G
ENST00000504517.5:c.2481A>G	ENSP00000421779.1:n.2481A>G
ENST00000504690.5:c.2951A>G	ENSP00000425627.1:p.His984Arg
ENST00000510779.1:c.2001A>G
ENST00000511307.5:c.*2838A>G	ENSP00000421420.1:n.*2838A>G
ENST00000512049.5:c.2930A>G	ENSP00000421860.1:p.His977Arg
ENST00000513604.5:c.*2446A>G	ENSP00000423111.1:n.*2446A>G
ENST00000515425.5:c.2951A>G	ENSP00000423660.1:p.His984Arg
NM_024577.3:c.2951A>G , LRG_269t1:c.2951A>G	NP_078853.2:p.His984Arg
NM_024577.4:c.2951A>G MANE Select	NP_078853.2:p.His984Arg