Canonical Allele Identifier: CA128988959
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs879868532
MyVariant Identifiers: chr5:g.148373986A>G (hg19) chr5:g.148994423A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994423A>G , CM000667.2:g.148994423A>G GRCh38
NC_000005.9:g.148373986A>G , CM000667.1:g.148373986A>G GRCh37
NC_000005.8:g.148354179A>G NCBI36
NG_007947.2:g.73752T>C , LRG_269:g.73752T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10288T>C MANE Select ENSP00000423660.1:n.*10288T>C
ENST00000504690.5:c.*12+9303T>C ENSP00000425627.1:n.*12+9303T>C
ENST00000510350.1:n.231+12458T>C
NM_024577.3:c.*10288T>C , LRG_269t1:c.*10288T>C NP_078853.2:n.*10288T>C
NM_024577.4:c.*10288T>C MANE Select NP_078853.2:n.*10288T>C
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