Canonical Allele Identifier: CA10619411
Gene: SH3TC2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148984569T>C , CM000667.2:g.148984569T>C GRCh38
NC_000005.9:g.148364132T>C , CM000667.1:g.148364132T>C GRCh37
NC_000005.8:g.148344325T>C NCBI36
NG_007947.2:g.83606A>G , LRG_269:g.83606A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*20142A>G MANE Select ENSP00000423660.1:n.*20142A>G
ENST00000504690.5:c.*12+19157A>G ENSP00000425627.1:n.*12+19157A>G
ENST00000510350.1:n.231+22312A>G
NM_024577.3:c.*20142A>G , LRG_269t1:c.*20142A>G NP_078853.2:n.*20142A>G
NM_024577.4:c.*20142A>G MANE Select NP_078853.2:n.*20142A>G