Canonical Allele Identifier: CA805462256

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1411706235
• gnomAD v4: 5-149026519-T-G
• MyVariant Identifiers: chr5:g.148406082T>G (hg19) ; chr5:g.149026519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026519T>G , CM000667.2:g.149026519T>G	GRCh38
NC_000005.9:g.148406082T>G , CM000667.1:g.148406082T>G	GRCh37
NC_000005.8:g.148386275T>G	NCBI36
NG_007947.2:g.41656A>C , LRG_269:g.41656A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2949+53A>C
ENST00000515425.6:c.3053+53A>C MANE Select	ENSP00000423660.1:n.3053+53A>C
ENST00000675793.1:c.*2337+53A>C	ENSP00000502039.1:n.*2337+53A>C
ENST00000676056.1:c.*2563+53A>C	ENSP00000501827.1:n.*2563+53A>C
ENST00000323829.9:c.*2441+53A>C	ENSP00000313025.5:n.*2441+53A>C
ENST00000504517.5:c.2583+53A>C	ENSP00000421779.1:n.2583+53A>C
ENST00000504690.5:c.3053+53A>C	ENSP00000425627.1:n.3053+53A>C
ENST00000510779.1:c.2103+53A>C
ENST00000512049.5:c.3032+53A>C	ENSP00000421860.1:n.3032+53A>C
ENST00000513604.5:c.*2601A>C	ENSP00000423111.1:n.*2601A>C
ENST00000515425.5:c.3053+53A>C	ENSP00000423660.1:n.3053+53A>C
NM_024577.3:c.3053+53A>C , LRG_269t1:c.3053+53A>C	NP_078853.2:n.3053+53A>C
NM_024577.4:c.3053+53A>C MANE Select	NP_078853.2:n.3053+53A>C