Canonical Allele Identifier: CA2664866677

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606814-A-AGCCAGGGGTCCGGGAAGGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606816_30606837dup , CM000665.2:g.30606816_30606837dup	GRCh38
NC_000003.11:g.30648308_30648329dup , CM000665.1:g.30648308_30648329dup	GRCh37
NC_000003.10:g.30623312_30623333dup	NCBI36
NG_007490.1:g.5315_5336dup , LRG_779:g.5315_5336dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-68_-47dup MANE Select	ENSP00000295754.5:n.-68_-47dup
ENST00000295754.9:c.-68_-47dup	ENSP00000295754.5:n.-68_-47dup
ENST00000359013.4:c.-68_-47dup	ENSP00000351905.4:n.-68_-47dup
NM_001024847.2:c.-68_-47dup , LRG_779t1:c.-68_-47dup	NP_001020018.1:n.-68_-47dup
NM_003242.5:c.-68_-47dup	NP_003233.4:n.-68_-47dup
XM_011534045.1:c.-12+223_-12+244dup	XP_011532347.1:n.-12+223_-12+244dup
XM_011534045.3:c.-12+223_-12+244dup	XP_011532347.1:n.-12+223_-12+244dup
NM_003242.6:c.-68_-47dup MANE Select	NP_003233.4:n.-68_-47dup