Canonical Allele Identifier: CA321611

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688395T>G , CM000665.2:g.30688395T>G	GRCh38
NC_000003.11:g.30729887T>G , CM000665.1:g.30729887T>G	GRCh37
NC_000003.10:g.30704891T>G	NCBI36
NG_007490.1:g.86894T>G , LRG_779:g.86894T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1408T>G MANE Select	NP_003233.4:p.Tyr470Asp
ENST00000295754.10:c.1408T>G MANE Select	ENSP00000295754.5:p.Tyr470Asp
NM_001024847.2:c.1483T>G , LRG_779t1:c.1483T>G	NP_001020018.1:p.Tyr495Asp
NM_003242.5:c.1408T>G	NP_003233.4:p.Tyr470Asp
ENST00000295754.9:c.1408T>G	ENSP00000295754.5:p.Tyr470Asp
ENST00000359013.4:c.1483T>G	ENSP00000351905.4:p.Tyr495Asp
ENST00000672050.1:n.292T>G
ENST00000672866.1:n.3004T>G
ENST00000673203.1:n.286T>G
XM_011534043.1:c.1435T>G	XP_011532345.1:p.Tyr479Asp
XM_011534043.2:c.1435T>G	XP_011532345.1:p.Tyr479Asp
XM_011534044.1:c.1360T>G	XP_011532346.1:p.Tyr454Asp
XM_011534045.1:c.1303T>G	XP_011532347.1:p.Tyr435Asp
XM_011534045.3:c.1303T>G	XP_011532347.1:p.Tyr435Asp
XM_017007106.1:c.1303T>G	XP_016862595.1:p.Tyr435Asp