Canonical Allele Identifier: CA433058673

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125434355
• gnomAD v4: 3-30671972-G-A
• COSMIC: COSM345496
• MyVariant Identifiers: chr3:g.30713464G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671972G>A , CM000665.2:g.30671972G>A	GRCh38
NC_000003.11:g.30713464G>A , CM000665.1:g.30713464G>A	GRCh37
NC_000003.10:g.30688468G>A	NCBI36
NG_007490.1:g.70471G>A , LRG_779:g.70471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.789G>A MANE Select	ENSP00000295754.5:p.Leu263=
ENST00000672866.1:n.2385G>A
ENST00000295754.9:c.789G>A	ENSP00000295754.5:p.Leu263=
ENST00000359013.4:c.864G>A	ENSP00000351905.4:p.Leu288=
NM_001024847.2:c.864G>A , LRG_779t1:c.864G>A	NP_001020018.1:p.Leu288=
NM_003242.5:c.789G>A	NP_003233.4:p.Leu263=
XM_011534043.1:c.816G>A	XP_011532345.1:p.Leu272=
XM_011534044.1:c.741G>A	XP_011532346.1:p.Leu247=
XM_011534045.1:c.684G>A	XP_011532347.1:p.Leu228=
XM_011534043.2:c.816G>A	XP_011532345.1:p.Leu272=
XM_011534045.3:c.684G>A	XP_011532347.1:p.Leu228=
XM_017007106.1:c.684G>A	XP_016862595.1:p.Leu228=
NM_003242.6:c.789G>A MANE Select	NP_003233.4:p.Leu263=