Canonical Allele Identifier: CA906197338

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1358542795
• gnomAD v3: 3-30649320-G-A
• gnomAD v4: 3-30649320-G-A
• MyVariant Identifiers: chr3:g.30690812G>A (hg19) ; chr3:g.30649320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649320G>A , CM000665.2:g.30649320G>A	GRCh38
NC_000003.11:g.30690812G>A , CM000665.1:g.30690812G>A	GRCh37
NC_000003.10:g.30665816G>A	NCBI36
NG_007490.1:g.47819G>A , LRG_779:g.47819G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.264-950G>A MANE Select	ENSP00000295754.5:n.264-950G>A
ENST00000672866.1:n.1860-950G>A
ENST00000673250.1:n.388-950G>A
ENST00000295754.9:c.264-950G>A	ENSP00000295754.5:n.264-950G>A
ENST00000359013.4:c.339-950G>A	ENSP00000351905.4:n.339-950G>A
NM_001024847.2:c.339-950G>A , LRG_779t1:c.339-950G>A	NP_001020018.1:n.339-950G>A
NM_003242.5:c.264-950G>A	NP_003233.4:n.264-950G>A
XM_011534043.1:c.291-950G>A	XP_011532345.1:n.291-950G>A
XM_011534044.1:c.216-950G>A	XP_011532346.1:n.216-950G>A
XM_011534045.1:c.159-950G>A	XP_011532347.1:n.159-950G>A
XM_011534043.2:c.291-950G>A	XP_011532345.1:n.291-950G>A
XM_011534045.3:c.159-950G>A	XP_011532347.1:n.159-950G>A
XM_017007106.1:c.159-950G>A	XP_016862595.1:n.159-950G>A
NM_003242.6:c.264-950G>A MANE Select	NP_003233.4:n.264-950G>A