Canonical Allele Identifier: CA020613

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672335T>A , CM000665.2:g.30672335T>A	GRCh38
NC_000003.11:g.30713827T>A , CM000665.1:g.30713827T>A	GRCh37
NC_000003.10:g.30688831T>A	NCBI36
NG_007490.1:g.70834T>A , LRG_779:g.70834T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1152T>A MANE Select	NP_003233.4:p.Asn384Lys
ENST00000295754.10:c.1152T>A MANE Select	ENSP00000295754.5:p.Asn384Lys
NM_001024847.2:c.1227T>A , LRG_779t1:c.1227T>A	NP_001020018.1:p.Asn409Lys
NM_003242.5:c.1152T>A	NP_003233.4:p.Asn384Lys
ENST00000295754.9:c.1152T>A	ENSP00000295754.5:p.Asn384Lys
ENST00000359013.4:c.1227T>A	ENSP00000351905.4:p.Asn409Lys
ENST00000672866.1:n.2748T>A
XM_011534043.1:c.1179T>A	XP_011532345.1:p.Asn393Lys
XM_011534043.2:c.1179T>A	XP_011532345.1:p.Asn393Lys
XM_011534044.1:c.1104T>A	XP_011532346.1:p.Asn368Lys
XM_011534045.1:c.1047T>A	XP_011532347.1:p.Asn349Lys
XM_011534045.3:c.1047T>A	XP_011532347.1:p.Asn349Lys
XM_017007106.1:c.1047T>A	XP_016862595.1:p.Asn349Lys