Canonical Allele Identifier: CA2768852574
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994534A>G , CM000667.2:g.148994534A>G GRCh38
NC_000005.9:g.148374097A>G , CM000667.1:g.148374097A>G GRCh37
NC_000005.8:g.148354290A>G NCBI36
NG_007947.2:g.73641T>C , LRG_269:g.73641T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10177T>C MANE Select ENSP00000423660.1:n.*10177T>C
ENST00000504690.5:c.*12+9192T>C ENSP00000425627.1:n.*12+9192T>C
ENST00000510350.1:n.231+12347T>C
NM_024577.3:c.*10177T>C , LRG_269t1:c.*10177T>C NP_078853.2:n.*10177T>C
NM_024577.4:c.*10177T>C MANE Select NP_078853.2:n.*10177T>C