Canonical Allele Identifier: CA046981

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 389825
• ClinVar RCV Id: RCV000425888 ; RCV001427370
• dbSNP Id: rs770896804
• ExAC: 3:30732907 T / C
• gnomAD v2: 3-30732907-T-C
• gnomAD v3: 3-30691415-T-C
• gnomAD v4: 3-30691415-T-C
• MyVariant Identifiers: chr3:g.30732907T>C (hg19) ; chr3:g.30691415T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691415T>C , CM000665.2:g.30691415T>C	GRCh38
NC_000003.11:g.30732907T>C , CM000665.1:g.30732907T>C	GRCh37
NC_000003.10:g.30707911T>C	NCBI36
NG_007490.1:g.89914T>C , LRG_779:g.89914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1525-5T>C MANE Select	ENSP00000295754.5:n.1525-5T>C
ENST00000672050.1:n.409-5T>C
ENST00000672866.1:n.3121-5T>C
ENST00000673203.1:n.403-5T>C
ENST00000295754.9:c.1525-5T>C	ENSP00000295754.5:n.1525-5T>C
ENST00000359013.4:c.1600-5T>C	ENSP00000351905.4:n.1600-5T>C
NM_001024847.2:c.1600-5T>C , LRG_779t1:c.1600-5T>C	NP_001020018.1:n.1600-5T>C
NM_003242.5:c.1525-5T>C	NP_003233.4:n.1525-5T>C
XM_011534043.1:c.1552-5T>C	XP_011532345.1:n.1552-5T>C
XM_011534044.1:c.1477-5T>C	XP_011532346.1:n.1477-5T>C
XM_011534045.1:c.1420-5T>C	XP_011532347.1:n.1420-5T>C
XM_011534043.2:c.1552-5T>C	XP_011532345.1:n.1552-5T>C
XM_011534045.3:c.1420-5T>C	XP_011532347.1:n.1420-5T>C
XM_017007106.1:c.1420-5T>C	XP_016862595.1:n.1420-5T>C
NM_003242.6:c.1525-5T>C MANE Select	NP_003233.4:n.1525-5T>C