Canonical Allele Identifier: CA891842542

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 566446
• ClinVar RCV Id: RCV000686255 ; RCV004004246 ; RCV004026231
• dbSNP Id: rs1559443652
• gnomAD v4: 3-30606897-T-TGCTCAGGGGCC
• MyVariant Identifiers: chr3:g.30648390_30648400dup (hg19) ; chr3:g.30606898_30606908dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606898_30606908dup , CM000665.2:g.30606898_30606908dup	GRCh38
NC_000003.11:g.30648390_30648400dup , CM000665.1:g.30648390_30648400dup	GRCh37
NC_000003.10:g.30623394_30623404dup	NCBI36
NG_007490.1:g.5397_5407dup , LRG_779:g.5397_5407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.15_25dup MANE Select	ENSP00000295754.5:p.Leu9ArgfsTer32
ENST00000295754.9:c.15_25dup	ENSP00000295754.5:p.Leu9ArgfsTer32
ENST00000359013.4:c.15_25dup	ENSP00000351905.4:p.Leu9ArgfsTer?
NM_001024847.2:c.15_25dup , LRG_779t1:c.15_25dup	NP_001020018.1:p.Leu9ArgfsTer?
NM_003242.5:c.15_25dup	NP_003233.4:p.Leu9ArgfsTer32
XM_011534045.1:c.-12+305_-12+315dup	XP_011532347.1:n.-12+305_-12+315dup
XM_011534045.3:c.-12+305_-12+315dup	XP_011532347.1:n.-12+305_-12+315dup
NM_003242.6:c.15_25dup MANE Select	NP_003233.4:p.Leu9ArgfsTer32