Canonical Allele Identifier: CA047505

Gene: TGFBR2

Linked Data

• dbSNP Id: rs777080264
• ExAC: 3:30648398 G / A
• gnomAD v2: 3-30648398-G-A
• gnomAD v4: 3-30606906-G-A
• MyVariant Identifiers: chr3:g.30648398G>A (hg19) ; chr3:g.30606906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606906G>A , CM000665.2:g.30606906G>A	GRCh38
NC_000003.11:g.30648398G>A , CM000665.1:g.30648398G>A	GRCh37
NC_000003.10:g.30623402G>A	NCBI36
NG_007490.1:g.5405G>A , LRG_779:g.5405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.23G>A MANE Select	ENSP00000295754.5:p.Gly8Asp
ENST00000295754.9:c.23G>A	ENSP00000295754.5:p.Gly8Asp
ENST00000359013.4:c.23G>A	ENSP00000351905.4:p.Gly8Asp
NM_001024847.2:c.23G>A , LRG_779t1:c.23G>A	NP_001020018.1:p.Gly8Asp
NM_003242.5:c.23G>A	NP_003233.4:p.Gly8Asp
XM_011534045.1:c.-12+313G>A	XP_011532347.1:n.-12+313G>A
XM_011534045.3:c.-12+313G>A	XP_011532347.1:n.-12+313G>A
NM_003242.6:c.23G>A MANE Select	NP_003233.4:p.Gly8Asp