Canonical Allele Identifier: CA351808257

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1456174
• ClinVar RCV Id: RCV001946811
• dbSNP Id: rs1699352567
• MyVariant Identifiers: chr3:g.30713636T>G (hg19) ; chr3:g.30672144T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672144T>G , CM000665.2:g.30672144T>G	GRCh38
NC_000003.11:g.30713636T>G , CM000665.1:g.30713636T>G	GRCh37
NC_000003.10:g.30688640T>G	NCBI36
NG_007490.1:g.70643T>G , LRG_779:g.70643T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.961T>G MANE Select	ENSP00000295754.5:p.Tyr321Asp
ENST00000672866.1:n.2557T>G
ENST00000295754.9:c.961T>G	ENSP00000295754.5:p.Tyr321Asp
ENST00000359013.4:c.1036T>G	ENSP00000351905.4:p.Tyr346Asp
NM_001024847.2:c.1036T>G , LRG_779t1:c.1036T>G	NP_001020018.1:p.Tyr346Asp
NM_003242.5:c.961T>G	NP_003233.4:p.Tyr321Asp
XM_011534043.1:c.988T>G	XP_011532345.1:p.Tyr330Asp
XM_011534044.1:c.913T>G	XP_011532346.1:p.Tyr305Asp
XM_011534045.1:c.856T>G	XP_011532347.1:p.Tyr286Asp
XM_011534043.2:c.988T>G	XP_011532345.1:p.Tyr330Asp
XM_011534045.3:c.856T>G	XP_011532347.1:p.Tyr286Asp
XM_017007106.1:c.856T>G	XP_016862595.1:p.Tyr286Asp
NM_003242.6:c.961T>G MANE Select	NP_003233.4:p.Tyr321Asp