Canonical Allele Identifier: CA906175964

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1248362221
• gnomAD v3: 3-30608506-A-G
• gnomAD v4: 3-30608506-A-G
• MyVariant Identifiers: chr3:g.30649998A>G (hg19) ; chr3:g.30608506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30608506A>G , CM000665.2:g.30608506A>G	GRCh38
NC_000003.11:g.30649998A>G , CM000665.1:g.30649998A>G	GRCh37
NC_000003.10:g.30625002A>G	NCBI36
NG_007490.1:g.7005A>G , LRG_779:g.7005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.94+1529A>G MANE Select	ENSP00000295754.5:n.94+1529A>G
ENST00000295754.9:c.94+1529A>G	ENSP00000295754.5:n.94+1529A>G
ENST00000359013.4:c.94+1529A>G	ENSP00000351905.4:n.94+1529A>G
NM_001024847.2:c.94+1529A>G , LRG_779t1:c.94+1529A>G	NP_001020018.1:n.94+1529A>G
NM_003242.5:c.94+1529A>G	NP_003233.4:n.94+1529A>G
XM_011534045.1:c.-12+1913A>G	XP_011532347.1:n.-12+1913A>G
XM_011534045.3:c.-12+1913A>G	XP_011532347.1:n.-12+1913A>G
NM_003242.6:c.94+1529A>G MANE Select	NP_003233.4:n.94+1529A>G