Canonical Allele Identifier: CA542110104

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1416020390
• gnomAD v2: 3-30648113-G-A
• gnomAD v3: 3-30606621-G-A
• gnomAD v4: 3-30606621-G-A
• MyVariant Identifiers: chr3:g.30648113G>A (hg19) ; chr3:g.30606621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606621G>A , CM000665.2:g.30606621G>A	GRCh38
NC_000003.11:g.30648113G>A , CM000665.1:g.30648113G>A	GRCh37
NC_000003.10:g.30623117G>A	NCBI36
NG_007490.1:g.5120G>A , LRG_779:g.5120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-263G>A MANE Select	ENSP00000295754.5:n.-263G>A
ENST00000295754.9:c.-263G>A	ENSP00000295754.5:n.-263G>A
ENST00000359013.4:c.-263G>A	ENSP00000351905.4:n.-263G>A
NM_001024847.2:c.-263G>A , LRG_779t1:c.-263G>A	NP_001020018.1:n.-263G>A
NM_003242.5:c.-263G>A	NP_003233.4:n.-263G>A
XM_011534045.1:c.-12+28G>A	XP_011532347.1:n.-12+28G>A
XM_011534045.3:c.-12+28G>A	XP_011532347.1:n.-12+28G>A
NM_003242.6:c.-263G>A MANE Select	NP_003233.4:n.-263G>A