Canonical Allele Identifier: CA805483763
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1321057629
gnomAD v3: 5-148994653-T-A
gnomAD v4: 5-148994653-T-A
MyVariant Identifiers: chr5:g.148374216T>A (hg19) chr5:g.148994653T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994653T>A , CM000667.2:g.148994653T>A GRCh38
NC_000005.9:g.148374216T>A , CM000667.1:g.148374216T>A GRCh37
NC_000005.8:g.148354409T>A NCBI36
NG_007947.2:g.73522A>T , LRG_269:g.73522A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10058A>T MANE Select ENSP00000423660.1:n.*10058A>T
ENST00000504690.5:c.*12+9073A>T ENSP00000425627.1:n.*12+9073A>T
ENST00000510350.1:n.231+12228A>T
NM_024577.3:c.*10058A>T , LRG_269t1:c.*10058A>T NP_078853.2:n.*10058A>T
NM_024577.4:c.*10058A>T MANE Select NP_078853.2:n.*10058A>T
Search 100 bp 5'
Search 100 bp 3'