Canonical Allele Identifier: CA351808663

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125436639
• MyVariant Identifiers: chr3:g.30713835T>G (hg19) ; chr3:g.30672343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672343T>G , CM000665.2:g.30672343T>G	GRCh38
NC_000003.11:g.30713835T>G , CM000665.1:g.30713835T>G	GRCh37
NC_000003.10:g.30688839T>G	NCBI36
NG_007490.1:g.70842T>G , LRG_779:g.70842T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1160T>G MANE Select	ENSP00000295754.5:p.Val387Gly
ENST00000672866.1:n.2756T>G
ENST00000295754.9:c.1160T>G	ENSP00000295754.5:p.Val387Gly
ENST00000359013.4:c.1235T>G	ENSP00000351905.4:p.Val412Gly
NM_001024847.2:c.1235T>G , LRG_779t1:c.1235T>G	NP_001020018.1:p.Val412Gly
NM_003242.5:c.1160T>G	NP_003233.4:p.Val387Gly
XM_011534043.1:c.1187T>G	XP_011532345.1:p.Val396Gly
XM_011534044.1:c.1112T>G	XP_011532346.1:p.Val371Gly
XM_011534045.1:c.1055T>G	XP_011532347.1:p.Val352Gly
XM_011534043.2:c.1187T>G	XP_011532345.1:p.Val396Gly
XM_011534045.3:c.1055T>G	XP_011532347.1:p.Val352Gly
XM_017007106.1:c.1055T>G	XP_016862595.1:p.Val352Gly
NM_003242.6:c.1160T>G MANE Select	NP_003233.4:p.Val387Gly