Canonical Allele Identifier: CA71502396

Gene: TGFBR2

Linked Data

• dbSNP Id: rs17838700
• gnomAD v2: 3-30690866-G-A
• gnomAD v3: 3-30649374-G-A
• gnomAD v4: 3-30649374-G-A
• MyVariant Identifiers: chr3:g.30690866G>A (hg19) ; chr3:g.30649374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649374G>A , CM000665.2:g.30649374G>A	GRCh38
NC_000003.11:g.30690866G>A , CM000665.1:g.30690866G>A	GRCh37
NC_000003.10:g.30665870G>A	NCBI36
NG_007490.1:g.47873G>A , LRG_779:g.47873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.264-896G>A MANE Select	ENSP00000295754.5:n.264-896G>A
ENST00000672866.1:n.1860-896G>A
ENST00000673250.1:n.388-896G>A
ENST00000295754.9:c.264-896G>A	ENSP00000295754.5:n.264-896G>A
ENST00000359013.4:c.339-896G>A	ENSP00000351905.4:n.339-896G>A
NM_001024847.2:c.339-896G>A , LRG_779t1:c.339-896G>A	NP_001020018.1:n.339-896G>A
NM_003242.5:c.264-896G>A	NP_003233.4:n.264-896G>A
XM_011534043.1:c.291-896G>A	XP_011532345.1:n.291-896G>A
XM_011534044.1:c.216-896G>A	XP_011532346.1:n.216-896G>A
XM_011534045.1:c.159-896G>A	XP_011532347.1:n.159-896G>A
XM_011534043.2:c.291-896G>A	XP_011532345.1:n.291-896G>A
XM_011534045.3:c.159-896G>A	XP_011532347.1:n.159-896G>A
XM_017007106.1:c.159-896G>A	XP_016862595.1:n.159-896G>A
NM_003242.6:c.264-896G>A MANE Select	NP_003233.4:n.264-896G>A