Canonical Allele Identifier: CA351809514

Gene: TGFBR2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691436G>C , CM000665.2:g.30691436G>C	GRCh38
NC_000003.11:g.30732928G>C , CM000665.1:g.30732928G>C	GRCh37
NC_000003.10:g.30707932G>C	NCBI36
NG_007490.1:g.89935G>C , LRG_779:g.89935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1541G>C MANE Select	ENSP00000295754.5:p.Cys514Ser
ENST00000672050.1:n.425G>C
ENST00000672866.1:n.3137G>C
ENST00000673203.1:n.419G>C
ENST00000295754.9:c.1541G>C	ENSP00000295754.5:p.Cys514Ser
ENST00000359013.4:c.1616G>C	ENSP00000351905.4:p.Cys539Ser
NM_001024847.2:c.1616G>C , LRG_779t1:c.1616G>C	NP_001020018.1:p.Cys539Ser
NM_003242.5:c.1541G>C	NP_003233.4:p.Cys514Ser
XM_011534043.1:c.1568G>C	XP_011532345.1:p.Cys523Ser
XM_011534044.1:c.1493G>C	XP_011532346.1:p.Cys498Ser
XM_011534045.1:c.1436G>C	XP_011532347.1:p.Cys479Ser
XM_011534043.2:c.1568G>C	XP_011532345.1:p.Cys523Ser
XM_011534045.3:c.1436G>C	XP_011532347.1:p.Cys479Ser
XM_017007106.1:c.1436G>C	XP_016862595.1:p.Cys479Ser
NM_003242.6:c.1541G>C MANE Select	NP_003233.4:p.Cys514Ser