Canonical Allele Identifier: CA351807589

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713334T>G (hg19) ; chr3:g.30671842T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671842T>G , CM000665.2:g.30671842T>G	GRCh38
NC_000003.11:g.30713334T>G , CM000665.1:g.30713334T>G	GRCh37
NC_000003.10:g.30688338T>G	NCBI36
NG_007490.1:g.70341T>G , LRG_779:g.70341T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.659T>G MANE Select	ENSP00000295754.5:p.Leu220Arg
ENST00000672866.1:n.2255T>G
ENST00000295754.9:c.659T>G	ENSP00000295754.5:p.Leu220Arg
ENST00000359013.4:c.734T>G	ENSP00000351905.4:p.Leu245Arg
NM_001024847.2:c.734T>G , LRG_779t1:c.734T>G	NP_001020018.1:p.Leu245Arg
NM_003242.5:c.659T>G	NP_003233.4:p.Leu220Arg
XM_011534043.1:c.686T>G	XP_011532345.1:p.Leu229Arg
XM_011534044.1:c.611T>G	XP_011532346.1:p.Leu204Arg
XM_011534045.1:c.554T>G	XP_011532347.1:p.Leu185Arg
XM_011534043.2:c.686T>G	XP_011532345.1:p.Leu229Arg
XM_011534045.3:c.554T>G	XP_011532347.1:p.Leu185Arg
XM_017007106.1:c.554T>G	XP_016862595.1:p.Leu185Arg
NM_003242.6:c.659T>G MANE Select	NP_003233.4:p.Leu220Arg