Canonical Allele Identifier: CA906173425

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1164249250
• gnomAD v3: 3-30606761-A-G
• gnomAD v4: 3-30606761-A-G
• MyVariant Identifiers: chr3:g.30648253A>G (hg19) ; chr3:g.30606761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606761A>G , CM000665.2:g.30606761A>G	GRCh38
NC_000003.11:g.30648253A>G , CM000665.1:g.30648253A>G	GRCh37
NC_000003.10:g.30623257A>G	NCBI36
NG_007490.1:g.5260A>G , LRG_779:g.5260A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-123A>G MANE Select	ENSP00000295754.5:n.-123A>G
ENST00000295754.9:c.-123A>G	ENSP00000295754.5:n.-123A>G
ENST00000359013.4:c.-123A>G	ENSP00000351905.4:n.-123A>G
NM_001024847.2:c.-123A>G , LRG_779t1:c.-123A>G	NP_001020018.1:n.-123A>G
NM_003242.5:c.-123A>G	NP_003233.4:n.-123A>G
XM_011534045.1:c.-12+168A>G	XP_011532347.1:n.-12+168A>G
XM_011534045.3:c.-12+168A>G	XP_011532347.1:n.-12+168A>G
NM_003242.6:c.-123A>G MANE Select	NP_003233.4:n.-123A>G