Canonical Allele Identifier: CA045964

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672405C>A , CM000665.2:g.30672405C>A	GRCh38
NC_000003.11:g.30713897C>A , CM000665.1:g.30713897C>A	GRCh37
NC_000003.10:g.30688901C>A	NCBI36
NG_007490.1:g.70904C>A , LRG_779:g.70904C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1222C>A MANE Select	NP_003233.4:p.Leu408Met
ENST00000295754.10:c.1222C>A MANE Select	ENSP00000295754.5:p.Leu408Met
NM_001024847.2:c.1297C>A , LRG_779t1:c.1297C>A	NP_001020018.1:p.Leu433Met
NM_003242.5:c.1222C>A	NP_003233.4:p.Leu408Met
ENST00000295754.9:c.1222C>A	ENSP00000295754.5:p.Leu408Met
ENST00000359013.4:c.1297C>A	ENSP00000351905.4:p.Leu433Met
ENST00000672866.1:n.2818C>A
XM_011534043.1:c.1249C>A	XP_011532345.1:p.Leu417Met
XM_011534043.2:c.1249C>A	XP_011532345.1:p.Leu417Met
XM_011534044.1:c.1174C>A	XP_011532346.1:p.Leu392Met
XM_011534045.1:c.1117C>A	XP_011532347.1:p.Leu373Met
XM_011534045.3:c.1117C>A	XP_011532347.1:p.Leu373Met
XM_017007106.1:c.1117C>A	XP_016862595.1:p.Leu373Met