Canonical Allele Identifier: CA1082791838

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753477002
• gnomAD v3: 5-148994670-G-GGTT
• gnomAD v4: 5-148994670-G-GGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148994672_148994674dup , CM000667.2:g.148994672_148994674dup	GRCh38
NC_000005.9:g.148374235_148374237dup , CM000667.1:g.148374235_148374237dup	GRCh37
NC_000005.8:g.148354428_148354430dup	NCBI36
NG_007947.2:g.73502_73504dup , LRG_269:g.73502_73504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*10038_*10040dup MANE Select	ENSP00000423660.1:n.*10038_*10040dup
ENST00000504690.5:c.*12+9053_*12+9055dup	ENSP00000425627.1:n.*12+9053_*12+9055dup
ENST00000510350.1:n.231+12208_231+12210dup
NM_024577.3:c.*10038_*10040dup , LRG_269t1:c.*10038_*10040dup	NP_078853.2:n.*10038_*10040dup
NM_024577.4:c.*10038_*10040dup MANE Select	NP_078853.2:n.*10038_*10040dup