Canonical Allele Identifier: CA351830468

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2431494
• ClinVar RCV Id: RCV003140548
• gnomAD v4: 3-30606890-C-T
• MyVariant Identifiers: chr3:g.30648382C>T (hg19) ; chr3:g.30606890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606890C>T , CM000665.2:g.30606890C>T	GRCh38
NC_000003.11:g.30648382C>T , CM000665.1:g.30648382C>T	GRCh37
NC_000003.10:g.30623386C>T	NCBI36
NG_007490.1:g.5389C>T , LRG_779:g.5389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.7C>T MANE Select	ENSP00000295754.5:p.Arg3Trp
ENST00000295754.9:c.7C>T	ENSP00000295754.5:p.Arg3Trp
ENST00000359013.4:c.7C>T	ENSP00000351905.4:p.Arg3Trp
NM_001024847.2:c.7C>T , LRG_779t1:c.7C>T	NP_001020018.1:p.Arg3Trp
NM_003242.5:c.7C>T	NP_003233.4:p.Arg3Trp
XM_011534045.1:c.-12+297C>T	XP_011532347.1:n.-12+297C>T
XM_011534045.3:c.-12+297C>T	XP_011532347.1:n.-12+297C>T
NM_003242.6:c.7C>T MANE Select	NP_003233.4:p.Arg3Trp