Canonical Allele Identifier: CA322774

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213924
• ClinVar RCV Id: RCV000807163
• dbSNP Id: rs863223845
• MyVariant Identifiers: chr3:g.30713864G>T (hg19) ; chr3:g.30672372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672372G>T , CM000665.2:g.30672372G>T	GRCh38
NC_000003.11:g.30713864G>T , CM000665.1:g.30713864G>T	GRCh37
NC_000003.10:g.30688868G>T	NCBI36
NG_007490.1:g.70871G>T , LRG_779:g.70871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1189G>T MANE Select	ENSP00000295754.5:p.Asp397Tyr
ENST00000672866.1:n.2785G>T
ENST00000295754.9:c.1189G>T	ENSP00000295754.5:p.Asp397Tyr
ENST00000359013.4:c.1264G>T	ENSP00000351905.4:p.Asp422Tyr
NM_001024847.2:c.1264G>T , LRG_779t1:c.1264G>T	NP_001020018.1:p.Asp422Tyr
NM_003242.5:c.1189G>T	NP_003233.4:p.Asp397Tyr
XM_011534043.1:c.1216G>T	XP_011532345.1:p.Asp406Tyr
XM_011534044.1:c.1141G>T	XP_011532346.1:p.Asp381Tyr
XM_011534045.1:c.1084G>T	XP_011532347.1:p.Asp362Tyr
XM_011534043.2:c.1216G>T	XP_011532345.1:p.Asp406Tyr
XM_011534045.3:c.1084G>T	XP_011532347.1:p.Asp362Tyr
XM_017007106.1:c.1084G>T	XP_016862595.1:p.Asp362Tyr
NM_003242.6:c.1189G>T MANE Select	NP_003233.4:p.Asp397Tyr