Canonical Allele Identifier: CA71544876

Gene: TGFBR2

Linked Data

• dbSNP Id: rs907771634
• gnomAD v2: 3-30730954-T-G
• gnomAD v3: 3-30689462-T-G
• gnomAD v4: 3-30689462-T-G
• MyVariant Identifiers: chr3:g.30730954T>G (hg19) ; chr3:g.30689462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689462T>G , CM000665.2:g.30689462T>G	GRCh38
NC_000003.11:g.30730954T>G , CM000665.1:g.30730954T>G	GRCh37
NC_000003.10:g.30705958T>G	NCBI36
NG_007490.1:g.87961T>G , LRG_779:g.87961T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1524+951T>G MANE Select	ENSP00000295754.5:n.1524+951T>G
ENST00000672050.1:n.408+951T>G
ENST00000672866.1:n.3120+951T>G
ENST00000673203.1:n.402+951T>G
ENST00000295754.9:c.1524+951T>G	ENSP00000295754.5:n.1524+951T>G
ENST00000359013.4:c.1599+951T>G	ENSP00000351905.4:n.1599+951T>G
NM_001024847.2:c.1599+951T>G , LRG_779t1:c.1599+951T>G	NP_001020018.1:n.1599+951T>G
NM_003242.5:c.1524+951T>G	NP_003233.4:n.1524+951T>G
XM_011534043.1:c.1551+951T>G	XP_011532345.1:n.1551+951T>G
XM_011534044.1:c.1476+951T>G	XP_011532346.1:n.1476+951T>G
XM_011534045.1:c.1419+951T>G	XP_011532347.1:n.1419+951T>G
XM_011534043.2:c.1551+951T>G	XP_011532345.1:n.1551+951T>G
XM_011534045.3:c.1419+951T>G	XP_011532347.1:n.1419+951T>G
XM_017007106.1:c.1419+951T>G	XP_016862595.1:n.1419+951T>G
NM_003242.6:c.1524+951T>G MANE Select	NP_003233.4:n.1524+951T>G