Canonical Allele Identifier: CA2675887619

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149009133-T-TTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149009134_149009137dup , CM000667.2:g.149009134_149009137dup	GRCh38
NC_000005.9:g.148388697_148388700dup , CM000667.1:g.148388697_148388700dup	GRCh37
NC_000005.8:g.148368890_148368893dup	NCBI36
NG_007947.2:g.59038_59041dup , LRG_269:g.59038_59041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3224-136_3224-133dup
ENST00000515425.6:c.3328-136_3328-133dup MANE Select	ENSP00000423660.1:n.3328-136_3328-133dup
ENST00000675793.1:c.*2612-136_*2612-133dup	ENSP00000502039.1:n.*2612-136_*2612-133dup
ENST00000323829.9:c.*2716-136_*2716-133dup	ENSP00000313025.5:n.*2716-136_*2716-133dup
ENST00000504517.5:c.2858-136_2858-133dup	ENSP00000421779.1:n.2858-136_2858-133dup
ENST00000504690.5:c.3328-136_3328-133dup	ENSP00000425627.1:n.3328-136_3328-133dup
ENST00000510779.1:c.2378-136_2378-133dup
ENST00000512049.5:c.3307-136_3307-133dup	ENSP00000421860.1:n.3307-136_3307-133dup
ENST00000515425.5:c.3328-136_3328-133dup	ENSP00000423660.1:n.3328-136_3328-133dup
NM_024577.3:c.3328-136_3328-133dup , LRG_269t1:c.3328-136_3328-133dup	NP_078853.2:n.3328-136_3328-133dup
NM_024577.4:c.3328-136_3328-133dup MANE Select	NP_078853.2:n.3328-136_3328-133dup