Canonical Allele Identifier: CA10619514

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351777
• ClinVar RCV Id: RCV000308209 ; RCV000362853
• dbSNP Id: rs187720692
• gnomAD v2: 5-148377268-A-G
• gnomAD v3: 5-148997705-A-G
• gnomAD v4: 5-148997705-A-G
• MyVariant Identifiers: chr5:g.148377268A>G (hg19) ; chr5:g.148997705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148997705A>G , CM000667.2:g.148997705A>G	GRCh38
NC_000005.9:g.148377268A>G , CM000667.1:g.148377268A>G	GRCh37
NC_000005.8:g.148357461A>G	NCBI36
NG_007947.2:g.70470T>C , LRG_269:g.70470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*7006T>C MANE Select	ENSP00000423660.1:n.*7006T>C
ENST00000504690.5:c.*12+6021T>C	ENSP00000425627.1:n.*12+6021T>C
ENST00000510350.1:n.231+9176T>C
NM_024577.3:c.*7006T>C , LRG_269t1:c.*7006T>C	NP_078853.2:n.*7006T>C
NM_024577.4:c.*7006T>C MANE Select	NP_078853.2:n.*7006T>C