Canonical Allele Identifier: CA10623272
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351587
ClinVar RCV Id: RCV000305322 RCV000391198
dbSNP Id: rs77021631
gnomAD v2: 5-148363811-A-G
gnomAD v3: 5-148984248-A-G
gnomAD v4: 5-148984248-A-G
MyVariant Identifiers: chr5:g.148363811A>G (hg19) chr5:g.148984248A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148984248A>G , CM000667.2:g.148984248A>G GRCh38
NC_000005.9:g.148363811A>G , CM000667.1:g.148363811A>G GRCh37
NC_000005.8:g.148344004A>G NCBI36
NG_007947.2:g.83927T>C , LRG_269:g.83927T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*20463T>C MANE Select ENSP00000423660.1:n.*20463T>C
ENST00000504690.5:c.*12+19478T>C ENSP00000425627.1:n.*12+19478T>C
ENST00000510350.1:n.231+22633T>C
NM_024577.3:c.*20463T>C , LRG_269t1:c.*20463T>C NP_078853.2:n.*20463T>C
NM_024577.4:c.*20463T>C MANE Select NP_078853.2:n.*20463T>C
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