Canonical Allele Identifier: CA2675887331

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008592-A-ATGGCTGTTACATGGATAATCACTGGTCTTCATAACAACTACCATGAGGTGGGCACTATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008594_149008653dup , CM000667.2:g.149008594_149008653dup	GRCh38
NC_000005.9:g.148388157_148388216dup , CM000667.1:g.148388157_148388216dup	GRCh37
NC_000005.8:g.148368350_148368409dup	NCBI36
NG_007947.2:g.59523_59582dup , LRG_269:g.59523_59582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+199_3374+258dup
ENST00000515425.6:c.3478+199_3478+258dup MANE Select	ENSP00000423660.1:n.3478+199_3478+258dup
ENST00000675793.1:c.*2961_*3020dup	ENSP00000502039.1:n.*2961_*3020dup
ENST00000323829.9:c.*2866+199_*2866+258dup	ENSP00000313025.5:n.*2866+199_*2866+258dup
ENST00000504517.5:c.3008+199_3008+258dup	ENSP00000421779.1:n.3008+199_3008+258dup
ENST00000504690.5:c.3478+199_3478+258dup	ENSP00000425627.1:n.3478+199_3478+258dup
ENST00000510779.1:c.2528+199_2528+258dup
ENST00000512049.5:c.3457+199_3457+258dup	ENSP00000421860.1:n.3457+199_3457+258dup
ENST00000515229.5:n.140+199_140+258dup
ENST00000515425.5:c.3478+199_3478+258dup	ENSP00000423660.1:n.3478+199_3478+258dup
NM_024577.3:c.3478+199_3478+258dup , LRG_269t1:c.3478+199_3478+258dup	NP_078853.2:n.3478+199_3478+258dup
NM_024577.4:c.3478+199_3478+258dup MANE Select	NP_078853.2:n.3478+199_3478+258dup