Canonical Allele Identifier: CA432917617

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1013308477
• MyVariant Identifiers: chr3:g.30713848A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672356A>T , CM000665.2:g.30672356A>T	GRCh38
NC_000003.11:g.30713848A>T , CM000665.1:g.30713848A>T	GRCh37
NC_000003.10:g.30688852A>T	NCBI36
NG_007490.1:g.70855A>T , LRG_779:g.70855A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1173A>T MANE Select	ENSP00000295754.5:p.Leu391=
ENST00000672866.1:n.2769A>T
ENST00000295754.9:c.1173A>T	ENSP00000295754.5:p.Leu391=
ENST00000359013.4:c.1248A>T	ENSP00000351905.4:p.Leu416=
NM_001024847.2:c.1248A>T , LRG_779t1:c.1248A>T	NP_001020018.1:p.Leu416=
NM_003242.5:c.1173A>T	NP_003233.4:p.Leu391=
XM_011534043.1:c.1200A>T	XP_011532345.1:p.Leu400=
XM_011534044.1:c.1125A>T	XP_011532346.1:p.Leu375=
XM_011534045.1:c.1068A>T	XP_011532347.1:p.Leu356=
XM_011534043.2:c.1200A>T	XP_011532345.1:p.Leu400=
XM_011534045.3:c.1068A>T	XP_011532347.1:p.Leu356=
XM_017007106.1:c.1068A>T	XP_016862595.1:p.Leu356=
NM_003242.6:c.1173A>T MANE Select	NP_003233.4:p.Leu391=