Canonical Allele Identifier: CA915941891

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 636367
• ClinVar RCV Id: RCV000788165
• dbSNP Id: rs1575158901

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674117_30674119dup , CM000665.2:g.30674117_30674119dup	GRCh38
NC_000003.11:g.30715609_30715611dup , CM000665.1:g.30715609_30715611dup	GRCh37
NC_000003.10:g.30690613_30690615dup	NCBI36
NG_007490.1:g.72616_72618dup , LRG_779:g.72616_72618dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1267_1269dup MANE Select	ENSP00000295754.5:p.Arg423_Tyr424insArg
ENST00000672866.1:n.2863_2865dup
ENST00000673203.1:n.145_147dup
ENST00000295754.9:c.1267_1269dup	ENSP00000295754.5:p.Arg423_Tyr424insArg
ENST00000359013.4:c.1342_1344dup	ENSP00000351905.4:p.Arg448_Tyr449insArg
NM_001024847.2:c.1342_1344dup , LRG_779t1:c.1342_1344dup	NP_001020018.1:p.Arg448_Tyr449insArg
NM_003242.5:c.1267_1269dup	NP_003233.4:p.Arg423_Tyr424insArg
XM_011534043.1:c.1294_1296dup	XP_011532345.1:p.Arg432_Tyr433insArg
XM_011534044.1:c.1219_1221dup	XP_011532346.1:p.Arg407_Tyr408insArg
XM_011534045.1:c.1162_1164dup	XP_011532347.1:p.Arg388_Tyr389insArg
XM_011534043.2:c.1294_1296dup	XP_011532345.1:p.Arg432_Tyr433insArg
XM_011534045.3:c.1162_1164dup	XP_011532347.1:p.Arg388_Tyr389insArg
XM_017007106.1:c.1162_1164dup	XP_016862595.1:p.Arg388_Tyr389insArg
NM_003242.6:c.1267_1269dup MANE Select	NP_003233.4:p.Arg423_Tyr424insArg