Canonical Allele Identifier: CA048239

Gene: TGFBR2

Linked Data

• dbSNP Id: rs756788231
• ExAC: 3:30648373 G / A
• gnomAD v2: 3-30648373-G-A
• gnomAD v4: 3-30606881-G-A
• MyVariant Identifiers: chr3:g.30648373G>A (hg19) ; chr3:g.30606881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606881G>A , CM000665.2:g.30606881G>A	GRCh38
NC_000003.11:g.30648373G>A , CM000665.1:g.30648373G>A	GRCh37
NC_000003.10:g.30623377G>A	NCBI36
NG_007490.1:g.5380G>A , LRG_779:g.5380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-3G>A MANE Select	ENSP00000295754.5:n.-3G>A
ENST00000295754.9:c.-3G>A	ENSP00000295754.5:n.-3G>A
ENST00000359013.4:c.-3G>A	ENSP00000351905.4:n.-3G>A
NM_001024847.2:c.-3G>A , LRG_779t1:c.-3G>A	NP_001020018.1:n.-3G>A
NM_003242.5:c.-3G>A	NP_003233.4:n.-3G>A
XM_011534045.1:c.-12+288G>A	XP_011532347.1:n.-12+288G>A
XM_011534045.3:c.-12+288G>A	XP_011532347.1:n.-12+288G>A
NM_003242.6:c.-3G>A MANE Select	NP_003233.4:n.-3G>A