Canonical Allele Identifier: CA2664866616

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606776-C-CCGGCGCGGGGTCCGGAGAGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606785_30606807dup , CM000665.2:g.30606785_30606807dup	GRCh38
NC_000003.11:g.30648277_30648299dup , CM000665.1:g.30648277_30648299dup	GRCh37
NC_000003.10:g.30623281_30623303dup	NCBI36
NG_007490.1:g.5284_5306dup , LRG_779:g.5284_5306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-99_-77dup MANE Select	ENSP00000295754.5:n.-99_-77dup
ENST00000295754.9:c.-99_-77dup	ENSP00000295754.5:n.-99_-77dup
ENST00000359013.4:c.-99_-77dup	ENSP00000351905.4:n.-99_-77dup
NM_001024847.2:c.-99_-77dup , LRG_779t1:c.-99_-77dup	NP_001020018.1:n.-99_-77dup
NM_003242.5:c.-99_-77dup	NP_003233.4:n.-99_-77dup
XM_011534045.1:c.-12+192_-12+214dup	XP_011532347.1:n.-12+192_-12+214dup
XM_011534045.3:c.-12+192_-12+214dup	XP_011532347.1:n.-12+192_-12+214dup
NM_003242.6:c.-99_-77dup MANE Select	NP_003233.4:n.-99_-77dup