Canonical Allele Identifier: CA351808258

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1553630191
• MyVariant Identifiers: chr3:g.30713637A>T (hg19) ; chr3:g.30672145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672145A>T , CM000665.2:g.30672145A>T	GRCh38
NC_000003.11:g.30713637A>T , CM000665.1:g.30713637A>T	GRCh37
NC_000003.10:g.30688641A>T	NCBI36
NG_007490.1:g.70644A>T , LRG_779:g.70644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.962A>T MANE Select	ENSP00000295754.5:p.Tyr321Phe
ENST00000672866.1:n.2558A>T
ENST00000295754.9:c.962A>T	ENSP00000295754.5:p.Tyr321Phe
ENST00000359013.4:c.1037A>T	ENSP00000351905.4:p.Tyr346Phe
NM_001024847.2:c.1037A>T , LRG_779t1:c.1037A>T	NP_001020018.1:p.Tyr346Phe
NM_003242.5:c.962A>T	NP_003233.4:p.Tyr321Phe
XM_011534043.1:c.989A>T	XP_011532345.1:p.Tyr330Phe
XM_011534044.1:c.914A>T	XP_011532346.1:p.Tyr305Phe
XM_011534045.1:c.857A>T	XP_011532347.1:p.Tyr286Phe
XM_011534043.2:c.989A>T	XP_011532345.1:p.Tyr330Phe
XM_011534045.3:c.857A>T	XP_011532347.1:p.Tyr286Phe
XM_017007106.1:c.857A>T	XP_016862595.1:p.Tyr286Phe
NM_003242.6:c.962A>T MANE Select	NP_003233.4:p.Tyr321Phe