Canonical Allele Identifier: CA433058811

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1212491740
• gnomAD v2: 3-30713518-T-C
• gnomAD v4: 3-30672026-T-C
• MyVariant Identifiers: chr3:g.30713518T>C (hg19) ; chr3:g.30672026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672026T>C , CM000665.2:g.30672026T>C	GRCh38
NC_000003.11:g.30713518T>C , CM000665.1:g.30713518T>C	GRCh37
NC_000003.10:g.30688522T>C	NCBI36
NG_007490.1:g.70525T>C , LRG_779:g.70525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.843T>C MANE Select	ENSP00000295754.5:p.Tyr281=
ENST00000672866.1:n.2439T>C
ENST00000295754.9:c.843T>C	ENSP00000295754.5:p.Tyr281=
ENST00000359013.4:c.918T>C	ENSP00000351905.4:p.Tyr306=
NM_001024847.2:c.918T>C , LRG_779t1:c.918T>C	NP_001020018.1:p.Tyr306=
NM_003242.5:c.843T>C	NP_003233.4:p.Tyr281=
XM_011534043.1:c.870T>C	XP_011532345.1:p.Tyr290=
XM_011534044.1:c.795T>C	XP_011532346.1:p.Tyr265=
XM_011534045.1:c.738T>C	XP_011532347.1:p.Tyr246=
XM_011534043.2:c.870T>C	XP_011532345.1:p.Tyr290=
XM_011534045.3:c.738T>C	XP_011532347.1:p.Tyr246=
XM_017007106.1:c.738T>C	XP_016862595.1:p.Tyr246=
NM_003242.6:c.843T>C MANE Select	NP_003233.4:p.Tyr281=