Canonical Allele Identifier: CA10619485
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351712
ClinVar RCV Id: RCV000276160 RCV000389260
dbSNP Id: rs886060138
gnomAD v2: 5-148374142-T-C
gnomAD v3: 5-148994579-T-C
gnomAD v4: 5-148994579-T-C
MyVariant Identifiers: chr5:g.148374142T>C (hg19) chr5:g.148994579T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994579T>C , CM000667.2:g.148994579T>C GRCh38
NC_000005.9:g.148374142T>C , CM000667.1:g.148374142T>C GRCh37
NC_000005.8:g.148354335T>C NCBI36
NG_007947.2:g.73596A>G , LRG_269:g.73596A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10132A>G MANE Select ENSP00000423660.1:n.*10132A>G
ENST00000504690.5:c.*12+9147A>G ENSP00000425627.1:n.*12+9147A>G
ENST00000510350.1:n.231+12302A>G
NM_024577.3:c.*10132A>G , LRG_269t1:c.*10132A>G NP_078853.2:n.*10132A>G
NM_024577.4:c.*10132A>G MANE Select NP_078853.2:n.*10132A>G
Search 100 bp 5'
Search 100 bp 3'