Canonical Allele Identifier: CA71543417

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688251G>C , CM000665.2:g.30688251G>C	GRCh38
NC_000003.11:g.30729743G>C , CM000665.1:g.30729743G>C	GRCh37
NC_000003.10:g.30704747G>C	NCBI36
NG_007490.1:g.86750G>C , LRG_779:g.86750G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1397-133G>C MANE Select	NP_003233.4:n.1397-133G>C
ENST00000295754.10:c.1397-133G>C MANE Select	ENSP00000295754.5:n.1397-133G>C
NM_001024847.2:c.1472-133G>C , LRG_779t1:c.1472-133G>C	NP_001020018.1:n.1472-133G>C
NM_003242.5:c.1397-133G>C	NP_003233.4:n.1397-133G>C
ENST00000295754.9:c.1397-133G>C	ENSP00000295754.5:n.1397-133G>C
ENST00000359013.4:c.1472-133G>C	ENSP00000351905.4:n.1472-133G>C
ENST00000672050.1:n.281-133G>C
ENST00000672866.1:n.2993-133G>C
ENST00000673203.1:n.275-133G>C
XM_011534043.1:c.1424-133G>C	XP_011532345.1:n.1424-133G>C
XM_011534043.2:c.1424-133G>C	XP_011532345.1:n.1424-133G>C
XM_011534044.1:c.1349-133G>C	XP_011532346.1:n.1349-133G>C
XM_011534045.1:c.1292-133G>C	XP_011532347.1:n.1292-133G>C
XM_011534045.3:c.1292-133G>C	XP_011532347.1:n.1292-133G>C
XM_017007106.1:c.1292-133G>C	XP_016862595.1:n.1292-133G>C