Canonical Allele Identifier: CA658657555

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 476882
• ClinVar RCV Id: RCV000529572 ; RCV000857155
• dbSNP Id: rs1554121791

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028537_149028538delinsGG , CM000667.2:g.149028537_149028538delinsGG	GRCh38
NC_000005.9:g.148408100_148408101delinsGG , CM000667.1:g.148408100_148408101delinsGG	GRCh37
NC_000005.8:g.148388293_148388294delinsGG	NCBI36
NG_007947.2:g.39637_39638delinsCC , LRG_269:g.39637_39638delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1214_1215delinsCC
ENST00000515425.6:c.1194_1195delinsCC MANE Select	ENSP00000423660.1:p.Phe399Leu
ENST00000675793.1:c.*478_*479delinsCC	ENSP00000502039.1:n.*478_*479delinsCC
ENST00000676056.1:c.*704_*705delinsCC	ENSP00000501827.1:n.*704_*705delinsCC
ENST00000323829.9:c.*582_*583delinsCC	ENSP00000313025.5:n.*582_*583delinsCC
ENST00000504517.5:c.724_725delinsCC	ENSP00000421779.1:n.724_725delinsCC
ENST00000504690.5:c.1194_1195delinsCC	ENSP00000425627.1:p.Phe399Leu
ENST00000510779.1:c.244_245delinsCC
ENST00000511307.5:c.*974_*975delinsCC	ENSP00000421420.1:n.*974_*975delinsCC
ENST00000512049.5:c.1173_1174delinsCC	ENSP00000421860.1:p.Phe392Leu
ENST00000513340.1:n.568_569delinsCC
ENST00000513604.5:c.*582_*583delinsCC	ENSP00000423111.1:n.*582_*583delinsCC
ENST00000515425.5:c.1194_1195delinsCC	ENSP00000423660.1:p.Phe399Leu
NM_024577.3:c.1194_1195delinsCC , LRG_269t1:c.1194_1195delinsCC	NP_078853.2:p.Phe399Leu
NM_024577.4:c.1194_1195delinsCC MANE Select	NP_078853.2:p.Phe399Leu