Canonical Allele Identifier: CA342391
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21701
ClinVar RCV Id: RCV000789562 RCV001851980
dbSNP Id: rs80338921
MyVariant Identifiers: chr5:g.148417939C>T (hg19) chr5:g.149038376C>T (hg38)
PubMed: PMID:20301514
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149038376C>T , CM000667.2:g.149038376C>T GRCh38
NC_000005.9:g.148417939C>T , CM000667.1:g.148417939C>T GRCh37
NC_000005.8:g.148398132C>T NCBI36
NG_007947.2:g.29799G>A , LRG_269:g.29799G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.810G>A
ENST00000515425.6:c.920G>A MANE Select ENSP00000423660.1:p.Trp307Ter
ENST00000674655.1:c.182G>A ENSP00000502840.1:p.Trp61Ter
ENST00000674983.1:c.*178G>A ENSP00000502387.1:n.*178G>A
ENST00000675793.1:c.920G>A ENSP00000502039.1:p.Trp307Ter
ENST00000676056.1:c.*178G>A ENSP00000501827.1:n.*178G>A
ENST00000323829.9:c.*178G>A ENSP00000313025.5:n.*178G>A
ENST00000503071.1:n.387G>A
ENST00000504517.5:c.320G>A ENSP00000421779.1:p.Trp107Ter
ENST00000504690.5:c.920G>A ENSP00000425627.1:p.Trp307Ter
ENST00000511307.5:c.*700G>A ENSP00000421420.1:n.*700G>A
ENST00000512049.5:c.899G>A ENSP00000421860.1:p.Trp300Ter
ENST00000513604.5:c.*178G>A ENSP00000423111.1:n.*178G>A
ENST00000515425.5:c.920G>A ENSP00000423660.1:p.Trp307Ter
NM_024577.3:c.920G>A , LRG_269t1:c.920G>A NP_078853.2:p.Trp307Ter
NM_024577.4:c.920G>A MANE Select NP_078853.2:p.Trp307Ter
Search 100 bp 5'
Search 100 bp 3'