Canonical Allele Identifier: CA433058956

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2835270
• ClinVar RCV Id: RCV003644023
• dbSNP Id: rs781018006
• gnomAD v2: 3-30713642-C-T
• gnomAD v4: 3-30672150-C-T
• MyVariant Identifiers: chr3:g.30713642C>T (hg19) ; chr3:g.30672150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672150C>T , CM000665.2:g.30672150C>T	GRCh38
NC_000003.11:g.30713642C>T , CM000665.1:g.30713642C>T	GRCh37
NC_000003.10:g.30688646C>T	NCBI36
NG_007490.1:g.70649C>T , LRG_779:g.70649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.967C>T MANE Select	ENSP00000295754.5:p.Leu323=
ENST00000672866.1:n.2563C>T
ENST00000295754.9:c.967C>T	ENSP00000295754.5:p.Leu323=
ENST00000359013.4:c.1042C>T	ENSP00000351905.4:p.Leu348=
NM_001024847.2:c.1042C>T , LRG_779t1:c.1042C>T	NP_001020018.1:p.Leu348=
NM_003242.5:c.967C>T	NP_003233.4:p.Leu323=
XM_011534043.1:c.994C>T	XP_011532345.1:p.Leu332=
XM_011534044.1:c.919C>T	XP_011532346.1:p.Leu307=
XM_011534045.1:c.862C>T	XP_011532347.1:p.Leu288=
XM_011534043.2:c.994C>T	XP_011532345.1:p.Leu332=
XM_011534045.3:c.862C>T	XP_011532347.1:p.Leu288=
XM_017007106.1:c.862C>T	XP_016862595.1:p.Leu288=
NM_003242.6:c.967C>T MANE Select	NP_003233.4:p.Leu323=