Canonical Allele Identifier: CA433058278

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 921646
• ClinVar RCV Id: RCV001181200
• dbSNP Id: rs1424646103
• gnomAD v2: 3-30713333-C-T
• gnomAD v3: 3-30671841-C-T
• gnomAD v4: 3-30671841-C-T
• MyVariant Identifiers: chr3:g.30713333C>T (hg19) ; chr3:g.30671841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671841C>T , CM000665.2:g.30671841C>T	GRCh38
NC_000003.11:g.30713333C>T , CM000665.1:g.30713333C>T	GRCh37
NC_000003.10:g.30688337C>T	NCBI36
NG_007490.1:g.70340C>T , LRG_779:g.70340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.658C>T MANE Select	ENSP00000295754.5:p.Leu220=
ENST00000672866.1:n.2254C>T
ENST00000295754.9:c.658C>T	ENSP00000295754.5:p.Leu220=
ENST00000359013.4:c.733C>T	ENSP00000351905.4:p.Leu245=
NM_001024847.2:c.733C>T , LRG_779t1:c.733C>T	NP_001020018.1:p.Leu245=
NM_003242.5:c.658C>T	NP_003233.4:p.Leu220=
XM_011534043.1:c.685C>T	XP_011532345.1:p.Leu229=
XM_011534044.1:c.610C>T	XP_011532346.1:p.Leu204=
XM_011534045.1:c.553C>T	XP_011532347.1:p.Leu185=
XM_011534043.2:c.685C>T	XP_011532345.1:p.Leu229=
XM_011534045.3:c.553C>T	XP_011532347.1:p.Leu185=
XM_017007106.1:c.553C>T	XP_016862595.1:p.Leu185=
NM_003242.6:c.658C>T MANE Select	NP_003233.4:p.Leu220=