Canonical Allele Identifier: CA020619

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672342G>T , CM000665.2:g.30672342G>T	GRCh38
NC_000003.11:g.30713834G>T , CM000665.1:g.30713834G>T	GRCh37
NC_000003.10:g.30688838G>T	NCBI36
NG_007490.1:g.70841G>T , LRG_779:g.70841G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1159G>T MANE Select	NP_003233.4:p.Val387Leu
ENST00000295754.10:c.1159G>T MANE Select	ENSP00000295754.5:p.Val387Leu
NM_001024847.2:c.1234G>T , LRG_779t1:c.1234G>T	NP_001020018.1:p.Val412Leu
NM_003242.5:c.1159G>T	NP_003233.4:p.Val387Leu
ENST00000295754.9:c.1159G>T	ENSP00000295754.5:p.Val387Leu
ENST00000359013.4:c.1234G>T	ENSP00000351905.4:p.Val412Leu
ENST00000672866.1:n.2755G>T
XM_011534043.1:c.1186G>T	XP_011532345.1:p.Val396Leu
XM_011534043.2:c.1186G>T	XP_011532345.1:p.Val396Leu
XM_011534044.1:c.1111G>T	XP_011532346.1:p.Val371Leu
XM_011534045.1:c.1054G>T	XP_011532347.1:p.Val352Leu
XM_011534045.3:c.1054G>T	XP_011532347.1:p.Val352Leu
XM_017007106.1:c.1054G>T	XP_016862595.1:p.Val352Leu