Canonical Allele Identifier: CA342388

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 21700
• ClinVar RCV Id: RCV000020898
• dbSNP Id: rs80338937
• MyVariant Identifiers: chr5:g.148386518G>A (hg19) ; chr5:g.149006955G>A (hg38)
• PubMed: PMID:14574644 ; PMID:20301514

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006955G>A , CM000667.2:g.149006955G>A	GRCh38
NC_000005.9:g.148386518G>A , CM000667.1:g.148386518G>A	GRCh37
NC_000005.8:g.148366711G>A	NCBI36
NG_007947.2:g.61220C>T , LRG_269:g.61220C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4454C>T
ENST00000515425.6:c.3601C>T MANE Select	ENSP00000423660.1:p.Gln1201Ter
ENST00000675793.1:c.*4658C>T	ENSP00000502039.1:n.*4658C>T
ENST00000323829.9:c.*2989C>T	ENSP00000313025.5:n.*2989C>T
ENST00000502274.1:c.187C>T	ENSP00000421092.1:p.Gln63Ter
ENST00000504517.5:c.3123C>T	ENSP00000421779.1:n.3123C>T
ENST00000504690.5:c.3601C>T	ENSP00000425627.1:p.Gln1201Ter
ENST00000510350.1:n.157C>T
ENST00000510779.1:c.2651C>T
ENST00000512049.5:c.3580C>T	ENSP00000421860.1:p.Gln1194Ter
ENST00000515229.5:n.263C>T
ENST00000515425.5:c.3601C>T	ENSP00000423660.1:p.Gln1201Ter
NM_024577.3:c.3601C>T , LRG_269t1:c.3601C>T	NP_078853.2:p.Gln1201Ter
NM_024577.4:c.3601C>T MANE Select	NP_078853.2:p.Gln1201Ter