Canonical Allele Identifier: CA914737522

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1559473318
• gnomAD v2: 3-30732836-CAAG-C
• gnomAD v3: 3-30691344-CAAG-C
• gnomAD v4: 3-30691344-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691345_30691347del , CM000665.2:g.30691345_30691347del	GRCh38
NC_000003.11:g.30732837_30732839del , CM000665.1:g.30732837_30732839del	GRCh37
NC_000003.10:g.30707841_30707843del	NCBI36
NG_007490.1:g.89844_89846del , LRG_779:g.89844_89846del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1525-75_1525-73del MANE Select	ENSP00000295754.5:n.1525-75_1525-73del
ENST00000672050.1:n.409-75_409-73del
ENST00000672866.1:n.3121-75_3121-73del
ENST00000673203.1:n.403-75_403-73del
ENST00000295754.9:c.1525-75_1525-73del	ENSP00000295754.5:n.1525-75_1525-73del
ENST00000359013.4:c.1600-75_1600-73del	ENSP00000351905.4:n.1600-75_1600-73del
NM_001024847.2:c.1600-75_1600-73del , LRG_779t1:c.1600-75_1600-73del	NP_001020018.1:n.1600-75_1600-73del
NM_003242.5:c.1525-75_1525-73del	NP_003233.4:n.1525-75_1525-73del
XM_011534043.1:c.1552-75_1552-73del	XP_011532345.1:n.1552-75_1552-73del
XM_011534044.1:c.1477-75_1477-73del	XP_011532346.1:n.1477-75_1477-73del
XM_011534045.1:c.1420-75_1420-73del	XP_011532347.1:n.1420-75_1420-73del
XM_011534043.2:c.1552-75_1552-73del	XP_011532345.1:n.1552-75_1552-73del
XM_011534045.3:c.1420-75_1420-73del	XP_011532347.1:n.1420-75_1420-73del
XM_017007106.1:c.1420-75_1420-73del	XP_016862595.1:n.1420-75_1420-73del
NM_003242.6:c.1525-75_1525-73del MANE Select	NP_003233.4:n.1525-75_1525-73del