Canonical Allele Identifier: CA2664866747

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2774559
• ClinVar RCV Id: RCV003528697
• dbSNP Id: rs2125438616
• gnomAD v4: 3-30606879-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606879C>T , CM000665.2:g.30606879C>T	GRCh38
NC_000003.11:g.30648371C>T , CM000665.1:g.30648371C>T	GRCh37
NC_000003.10:g.30623375C>T	NCBI36
NG_007490.1:g.5378C>T , LRG_779:g.5378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-5C>T MANE Select	ENSP00000295754.5:n.-5C>T
ENST00000295754.9:c.-5C>T	ENSP00000295754.5:n.-5C>T
ENST00000359013.4:c.-5C>T	ENSP00000351905.4:n.-5C>T
NM_001024847.2:c.-5C>T , LRG_779t1:c.-5C>T	NP_001020018.1:n.-5C>T
NM_003242.5:c.-5C>T	NP_003233.4:n.-5C>T
XM_011534045.1:c.-12+286C>T	XP_011532347.1:n.-12+286C>T
XM_011534045.3:c.-12+286C>T	XP_011532347.1:n.-12+286C>T
NM_003242.6:c.-5C>T MANE Select	NP_003233.4:n.-5C>T