Canonical Allele Identifier: CA1139657940

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 928401
• ClinVar RCV Id: RCV001192262 ; RCV004033441
• dbSNP Id: rs1406962229
• gnomAD v4: 3-30606875-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606875G>T , CM000665.2:g.30606875G>T	GRCh38
NC_000003.11:g.30648367G>T , CM000665.1:g.30648367G>T	GRCh37
NC_000003.10:g.30623371G>T	NCBI36
NG_007490.1:g.5374G>T , LRG_779:g.5374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-9G>T MANE Select	ENSP00000295754.5:n.-9G>T
ENST00000295754.9:c.-9G>T	ENSP00000295754.5:n.-9G>T
ENST00000359013.4:c.-9G>T	ENSP00000351905.4:n.-9G>T
NM_001024847.2:c.-9G>T , LRG_779t1:c.-9G>T	NP_001020018.1:n.-9G>T
NM_003242.5:c.-9G>T	NP_003233.4:n.-9G>T
XM_011534045.1:c.-12+282G>T	XP_011532347.1:n.-12+282G>T
XM_011534045.3:c.-12+282G>T	XP_011532347.1:n.-12+282G>T
NM_003242.6:c.-9G>T MANE Select	NP_003233.4:n.-9G>T