Canonical Allele Identifier: CA2675887520

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2695979
• ClinVar RCV Id: RCV003582179
• gnomAD v4: 5-149026584-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026586del , CM000667.2:g.149026586del	GRCh38
NC_000005.9:g.148406149del , CM000667.1:g.148406149del	GRCh37
NC_000005.8:g.148386342del	NCBI36
NG_007947.2:g.41590del , LRG_269:g.41590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2936del
ENST00000515425.6:c.3040del MANE Select	ENSP00000423660.1:p.Leu1014Ter
ENST00000675793.1:c.*2324del	ENSP00000502039.1:n.*2324del
ENST00000676056.1:c.*2550del	ENSP00000501827.1:n.*2550del
ENST00000323829.9:c.*2428del	ENSP00000313025.5:n.*2428del
ENST00000504517.5:c.2570del	ENSP00000421779.1:n.2570del
ENST00000504690.5:c.3040del	ENSP00000425627.1:p.Leu1014Ter
ENST00000510779.1:c.2090del
ENST00000511307.5:c.*2927del	ENSP00000421420.1:n.*2927del
ENST00000512049.5:c.3019del	ENSP00000421860.1:p.Leu1007Ter
ENST00000513604.5:c.*2535del	ENSP00000423111.1:n.*2535del
ENST00000515425.5:c.3040del	ENSP00000423660.1:p.Leu1014Ter
NM_024577.3:c.3040del , LRG_269t1:c.3040del	NP_078853.2:p.Leu1014Ter
NM_024577.4:c.3040del MANE Select	NP_078853.2:p.Leu1014Ter