Canonical Allele Identifier: CA351807782

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713421T>G (hg19) ; chr3:g.30671929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671929T>G , CM000665.2:g.30671929T>G	GRCh38
NC_000003.11:g.30713421T>G , CM000665.1:g.30713421T>G	GRCh37
NC_000003.10:g.30688425T>G	NCBI36
NG_007490.1:g.70428T>G , LRG_779:g.70428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.746T>G MANE Select	ENSP00000295754.5:p.Leu249Arg
ENST00000672866.1:n.2342T>G
ENST00000295754.9:c.746T>G	ENSP00000295754.5:p.Leu249Arg
ENST00000359013.4:c.821T>G	ENSP00000351905.4:p.Leu274Arg
NM_001024847.2:c.821T>G , LRG_779t1:c.821T>G	NP_001020018.1:p.Leu274Arg
NM_003242.5:c.746T>G	NP_003233.4:p.Leu249Arg
XM_011534043.1:c.773T>G	XP_011532345.1:p.Leu258Arg
XM_011534044.1:c.698T>G	XP_011532346.1:p.Leu233Arg
XM_011534045.1:c.641T>G	XP_011532347.1:p.Leu214Arg
XM_011534043.2:c.773T>G	XP_011532345.1:p.Leu258Arg
XM_011534045.3:c.641T>G	XP_011532347.1:p.Leu214Arg
XM_017007106.1:c.641T>G	XP_016862595.1:p.Leu214Arg
NM_003242.6:c.746T>G MANE Select	NP_003233.4:p.Leu249Arg