Canonical Allele Identifier: CA805483596
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1449995215
gnomAD v3: 5-148994472-T-C
gnomAD v4: 5-148994472-T-C
MyVariant Identifiers: chr5:g.148374035T>C (hg19) chr5:g.148994472T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994472T>C , CM000667.2:g.148994472T>C GRCh38
NC_000005.9:g.148374035T>C , CM000667.1:g.148374035T>C GRCh37
NC_000005.8:g.148354228T>C NCBI36
NG_007947.2:g.73703A>G , LRG_269:g.73703A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10239A>G MANE Select ENSP00000423660.1:n.*10239A>G
ENST00000504690.5:c.*12+9254A>G ENSP00000425627.1:n.*12+9254A>G
ENST00000510350.1:n.231+12409A>G
NM_024577.3:c.*10239A>G , LRG_269t1:c.*10239A>G NP_078853.2:n.*10239A>G
NM_024577.4:c.*10239A>G MANE Select NP_078853.2:n.*10239A>G
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