Canonical Allele Identifier: CA128984092

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 907695
• ClinVar RCV Id: RCV001157712 ; RCV001157713
• dbSNP Id: rs756451967
• gnomAD v2: 5-148362066-A-G
• gnomAD v3: 5-148982503-A-G
• gnomAD v4: 5-148982503-A-G
• MyVariant Identifiers: chr5:g.148362066A>G (hg19) ; chr5:g.148982503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148982503A>G , CM000667.2:g.148982503A>G	GRCh38
NC_000005.9:g.148362066A>G , CM000667.1:g.148362066A>G	GRCh37
NC_000005.8:g.148342259A>G	NCBI36
NG_007947.2:g.85672T>C , LRG_269:g.85672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*22208T>C MANE Select	ENSP00000423660.1:n.*22208T>C
ENST00000504690.5:c.*12+21223T>C	ENSP00000425627.1:n.*12+21223T>C
ENST00000510350.1:n.231+24378T>C
NM_024577.3:c.*22208T>C , LRG_269t1:c.*22208T>C	NP_078853.2:n.*22208T>C
NM_024577.4:c.*22208T>C MANE Select	NP_078853.2:n.*22208T>C