Canonical Allele Identifier: CA914737466

Gene: TGFBR2

Linked Data

• dbSNP Id: rs992527383
• gnomAD v2: 3-30648121-C-G
• gnomAD v3: 3-30606629-C-G
• gnomAD v4: 3-30606629-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606629C>G , CM000665.2:g.30606629C>G	GRCh38
NC_000003.11:g.30648121C>G , CM000665.1:g.30648121C>G	GRCh37
NC_000003.10:g.30623125C>G	NCBI36
NG_007490.1:g.5128C>G , LRG_779:g.5128C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-255C>G MANE Select	ENSP00000295754.5:n.-255C>G
ENST00000295754.9:c.-255C>G	ENSP00000295754.5:n.-255C>G
ENST00000359013.4:c.-255C>G	ENSP00000351905.4:n.-255C>G
NM_001024847.2:c.-255C>G , LRG_779t1:c.-255C>G	NP_001020018.1:n.-255C>G
NM_003242.5:c.-255C>G	NP_003233.4:n.-255C>G
XM_011534045.1:c.-12+36C>G	XP_011532347.1:n.-12+36C>G
XM_011534045.3:c.-12+36C>G	XP_011532347.1:n.-12+36C>G
NM_003242.6:c.-255C>G MANE Select	NP_003233.4:n.-255C>G