Canonical Allele Identifier: CA10623110

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351596
• ClinVar RCV Id: RCV000286675 ; RCV000341638 ; RCV001785584
• dbSNP Id: rs5872105
• gnomAD v2: 5-148364709-G-GAA
• gnomAD v3: 5-148985146-G-GAA
• gnomAD v4: 5-148985146-G-GAA
• MyVariant Identifiers: chr5:g.148364710_148364711dupAA (hg19) ; chr5:g.148364710_148364711insAA (hg19) ; chr5:g.148364709_148364710insAA (hg19) ; chr5:g.148985147_148985148dupAA (hg38) ; chr5:g.148985147_148985148insAA (hg38) ; chr5:g.148985146_148985147insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148985157_148985158dup , CM000667.2:g.148985157_148985158dup	GRCh38
NC_000005.9:g.148364720_148364721dup , CM000667.1:g.148364720_148364721dup	GRCh37
NC_000005.8:g.148344913_148344914dup	NCBI36
NG_007947.2:g.83027_83028dup , LRG_269:g.83027_83028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*19563_*19564dup MANE Select	ENSP00000423660.1:n.*19563_*19564dup
ENST00000504690.5:c.*12+18578_*12+18579dup	ENSP00000425627.1:n.*12+18578_*12+18579dup
ENST00000510350.1:n.231+21733_231+21734dup
NM_024577.3:c.*19563_*19564dup , LRG_269t1:c.*19563_*19564dup	NP_078853.2:n.*19563_*19564dup
NM_024577.4:c.*19563_*19564dup MANE Select	NP_078853.2:n.*19563_*19564dup