Canonical Allele Identifier: CA10620564

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351610
• ClinVar RCV Id: RCV000271183 ; RCV000302866
• dbSNP Id: rs536826583
• gnomAD v2: 5-148365790-G-GA
• gnomAD v3: 5-148986227-G-GA
• gnomAD v4: 5-148986227-G-GA
• MyVariant Identifiers: chr5:g.148365791dupA (hg19) ; chr5:g.148365791_148365792insA (hg19) ; chr5:g.148365790_148365791insA (hg19) ; chr5:g.148986228dupA (hg38) ; chr5:g.148986228_148986229insA (hg38) ; chr5:g.148986227_148986228insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148986235dup , CM000667.2:g.148986235dup	GRCh38
NC_000005.9:g.148365798dup , CM000667.1:g.148365798dup	GRCh37
NC_000005.8:g.148345991dup	NCBI36
NG_007947.2:g.81947dup , LRG_269:g.81947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*18483dup MANE Select	ENSP00000423660.1:n.*18483dup
ENST00000504690.5:c.*12+17498dup	ENSP00000425627.1:n.*12+17498dup
ENST00000510350.1:n.231+20653dup
NM_024577.3:c.*18483dup , LRG_269t1:c.*18483dup	NP_078853.2:n.*18483dup
NM_024577.4:c.*18483dup MANE Select	NP_078853.2:n.*18483dup