Canonical Allele Identifier: CA1354873213

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672262_30672265delinsACCT , CM000665.2:g.30672262_30672265delinsACCT	GRCh38
NC_000003.11:g.30713754_30713757delinsACCT , CM000665.1:g.30713754_30713757delinsACCT	GRCh37
NC_000003.10:g.30688758_30688761delinsACCT	NCBI36
NG_007490.1:g.70761_70764delinsACCT , LRG_779:g.70761_70764delinsACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1079_1082delinsACCT MANE Select	ENSP00000295754.5:p.His360=
ENST00000672866.1:n.2675_2678delinsACCT
ENST00000295754.9:c.1079_1082delinsACCT	ENSP00000295754.5:p.His360=
ENST00000359013.4:c.1154_1157delinsACCT	ENSP00000351905.4:p.His385=
NM_001024847.2:c.1154_1157delinsACCT , LRG_779t1:c.1154_1157delinsACCT	NP_001020018.1:p.His385=
NM_003242.5:c.1079_1082delinsACCT	NP_003233.4:p.His360=
XM_011534043.1:c.1106_1109delinsACCT	XP_011532345.1:p.His369=
XM_011534044.1:c.1031_1034delinsACCT	XP_011532346.1:p.His344=
XM_011534045.1:c.974_977delinsACCT	XP_011532347.1:p.His325=
XM_011534043.2:c.1106_1109delinsACCT	XP_011532345.1:p.His369=
XM_011534045.3:c.974_977delinsACCT	XP_011532347.1:p.His325=
XM_017007106.1:c.974_977delinsACCT	XP_016862595.1:p.His325=
NM_003242.6:c.1079_1082delinsACCT MANE Select	NP_003233.4:p.His360=