Canonical Allele Identifier: CA351807569

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125433864
• MyVariant Identifiers: chr3:g.30713325C>T (hg19) ; chr3:g.30671833C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671833C>T , CM000665.2:g.30671833C>T	GRCh38
NC_000003.11:g.30713325C>T , CM000665.1:g.30713325C>T	GRCh37
NC_000003.10:g.30688329C>T	NCBI36
NG_007490.1:g.70332C>T , LRG_779:g.70332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.650C>T MANE Select	ENSP00000295754.5:p.Ala217Val
ENST00000672866.1:n.2246C>T
ENST00000295754.9:c.650C>T	ENSP00000295754.5:p.Ala217Val
ENST00000359013.4:c.725C>T	ENSP00000351905.4:p.Ala242Val
NM_001024847.2:c.725C>T , LRG_779t1:c.725C>T	NP_001020018.1:p.Ala242Val
NM_003242.5:c.650C>T	NP_003233.4:p.Ala217Val
XM_011534043.1:c.677C>T	XP_011532345.1:p.Ala226Val
XM_011534044.1:c.602C>T	XP_011532346.1:p.Ala201Val
XM_011534045.1:c.545C>T	XP_011532347.1:p.Ala182Val
XM_011534043.2:c.677C>T	XP_011532345.1:p.Ala226Val
XM_011534045.3:c.545C>T	XP_011532347.1:p.Ala182Val
XM_017007106.1:c.545C>T	XP_016862595.1:p.Ala182Val
NM_003242.6:c.650C>T MANE Select	NP_003233.4:p.Ala217Val