Canonical Allele Identifier: CA1046447381

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699355074
• gnomAD v3: 3-30672213-TGGGAGG-T
• gnomAD v4: 3-30672213-TGGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672214_30672219del , CM000665.2:g.30672214_30672219del	GRCh38
NC_000003.11:g.30713706_30713711del , CM000665.1:g.30713706_30713711del	GRCh37
NC_000003.10:g.30688710_30688715del	NCBI36
NG_007490.1:g.70713_70718del , LRG_779:g.70713_70718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1031_1036del MANE Select	ENSP00000295754.5:p.Trp344_Asp346delinsTyr
ENST00000672866.1:n.2627_2632del
ENST00000295754.9:c.1031_1036del	ENSP00000295754.5:p.Trp344_Asp346delinsTyr
ENST00000359013.4:c.1106_1111del	ENSP00000351905.4:p.Trp369_Asp371delinsTyr
NM_001024847.2:c.1106_1111del , LRG_779t1:c.1106_1111del	NP_001020018.1:p.Trp369_Asp371delinsTyr
NM_003242.5:c.1031_1036del	NP_003233.4:p.Trp344_Asp346delinsTyr
XM_011534043.1:c.1058_1063del	XP_011532345.1:p.Trp353_Asp355delinsTyr
XM_011534044.1:c.983_988del	XP_011532346.1:p.Trp328_Asp330delinsTyr
XM_011534045.1:c.926_931del	XP_011532347.1:p.Trp309_Asp311delinsTyr
XM_011534043.2:c.1058_1063del	XP_011532345.1:p.Trp353_Asp355delinsTyr
XM_011534045.3:c.926_931del	XP_011532347.1:p.Trp309_Asp311delinsTyr
XM_017007106.1:c.926_931del	XP_016862595.1:p.Trp309_Asp311delinsTyr
NM_003242.6:c.1031_1036del MANE Select	NP_003233.4:p.Trp344_Asp346delinsTyr