Canonical Allele Identifier: CA10618390

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344650
• ClinVar RCV Id: RCV000274037 ; RCV000331422 ; RCV000383490
• dbSNP Id: rs886058299
• MyVariant Identifiers: chr3:g.30648127T>G (hg19) ; chr3:g.30606635T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606635T>G , CM000665.2:g.30606635T>G	GRCh38
NC_000003.11:g.30648127T>G , CM000665.1:g.30648127T>G	GRCh37
NC_000003.10:g.30623131T>G	NCBI36
NG_007490.1:g.5134T>G , LRG_779:g.5134T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.-249T>G MANE Select	ENSP00000295754.5:n.-249T>G
ENST00000295754.9:c.-249T>G	ENSP00000295754.5:n.-249T>G
ENST00000359013.4:c.-249T>G	ENSP00000351905.4:n.-249T>G
NM_001024847.2:c.-249T>G , LRG_779t1:c.-249T>G	NP_001020018.1:n.-249T>G
NM_003242.5:c.-249T>G	NP_003233.4:n.-249T>G
XM_011534045.1:c.-12+42T>G	XP_011532347.1:n.-12+42T>G
XM_011534045.3:c.-12+42T>G	XP_011532347.1:n.-12+42T>G
NM_003242.6:c.-249T>G MANE Select	NP_003233.4:n.-249T>G