Canonical Allele Identifier: CA1046445415

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1697929586
• gnomAD v3: 3-30606791-G-T
• gnomAD v4: 3-30606791-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606791G>T , CM000665.2:g.30606791G>T	GRCh38
NC_000003.11:g.30648283G>T , CM000665.1:g.30648283G>T	GRCh37
NC_000003.10:g.30623287G>T	NCBI36
NG_007490.1:g.5290G>T , LRG_779:g.5290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-93G>T MANE Select	ENSP00000295754.5:n.-93G>T
ENST00000295754.9:c.-93G>T	ENSP00000295754.5:n.-93G>T
ENST00000359013.4:c.-93G>T	ENSP00000351905.4:n.-93G>T
NM_001024847.2:c.-93G>T , LRG_779t1:c.-93G>T	NP_001020018.1:n.-93G>T
NM_003242.5:c.-93G>T	NP_003233.4:n.-93G>T
XM_011534045.1:c.-12+198G>T	XP_011532347.1:n.-12+198G>T
XM_011534045.3:c.-12+198G>T	XP_011532347.1:n.-12+198G>T
NM_003242.6:c.-93G>T MANE Select	NP_003233.4:n.-93G>T