Canonical Allele Identifier: CA2768852572
Gene: SH3TC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994468C>G , CM000667.2:g.148994468C>G GRCh38
NC_000005.9:g.148374031C>G , CM000667.1:g.148374031C>G GRCh37
NC_000005.8:g.148354224C>G NCBI36
NG_007947.2:g.73707G>C , LRG_269:g.73707G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10243G>C MANE Select ENSP00000423660.1:n.*10243G>C
ENST00000504690.5:c.*12+9258G>C ENSP00000425627.1:n.*12+9258G>C
ENST00000510350.1:n.231+12413G>C
NM_024577.3:c.*10243G>C , LRG_269t1:c.*10243G>C NP_078853.2:n.*10243G>C
NM_024577.4:c.*10243G>C MANE Select NP_078853.2:n.*10243G>C
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