Canonical Allele Identifier: CA2675888049

Gene: SH3TC2

Linked Data

• dbSNP Id: rs2127397336
• gnomAD v4: 5-149027650-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027651del , CM000667.2:g.149027651del	GRCh38
NC_000005.9:g.148407214del , CM000667.1:g.148407214del	GRCh37
NC_000005.8:g.148387407del	NCBI36
NG_007947.2:g.40524del , LRG_269:g.40524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1977del
ENST00000515425.6:c.2081del MANE Select	ENSP00000423660.1:p.Gln694ArgfsTer?
ENST00000675793.1:c.*1365del	ENSP00000502039.1:n.*1365del
ENST00000676056.1:c.*1591del	ENSP00000501827.1:n.*1591del
ENST00000323829.9:c.*1469del	ENSP00000313025.5:n.*1469del
ENST00000504517.5:c.1611del	ENSP00000421779.1:n.1611del
ENST00000504690.5:c.2081del	ENSP00000425627.1:p.Gln694ArgfsTer?
ENST00000510779.1:c.1131del
ENST00000511307.5:c.*1861del	ENSP00000421420.1:n.*1861del
ENST00000512049.5:c.2060del	ENSP00000421860.1:p.Gln687ArgfsTer?
ENST00000513604.5:c.*1469del	ENSP00000423111.1:n.*1469del
ENST00000515425.5:c.2081del	ENSP00000423660.1:p.Gln694ArgfsTer?
NM_024577.3:c.2081del , LRG_269t1:c.2081del	NP_078853.2:p.Gln694ArgfsTer?
NM_024577.4:c.2081del MANE Select	NP_078853.2:p.Gln694ArgfsTer?