Canonical Allele Identifier: CA10623252

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351562
• ClinVar RCV Id: RCV000327529 ; RCV000384368
• dbSNP Id: rs55932017
• gnomAD v2: 5-148361720-A-AT
• gnomAD v3: 5-148982157-A-AT
• gnomAD v4: 5-148982157-A-AT
• MyVariant Identifiers: chr5:g.148361721dupT (hg19) ; chr5:g.148361721_148361722insT (hg19) ; chr5:g.148361720_148361721insT (hg19) ; chr5:g.148982158dupT (hg38) ; chr5:g.148982158_148982159insT (hg38) ; chr5:g.148982157_148982158insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148982167dup , CM000667.2:g.148982167dup	GRCh38
NC_000005.9:g.148361730dup , CM000667.1:g.148361730dup	GRCh37
NC_000005.8:g.148341923dup	NCBI36
NG_007947.2:g.86017dup , LRG_269:g.86017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*22553dup MANE Select	ENSP00000423660.1:n.*22553dup
ENST00000504690.5:c.*12+21568dup	ENSP00000425627.1:n.*12+21568dup
ENST00000510350.1:n.231+24723dup
NM_024577.3:c.*22553dup , LRG_269t1:c.*22553dup	NP_078853.2:n.*22553dup
NM_024577.4:c.*22553dup MANE Select	NP_078853.2:n.*22553dup