Canonical Allele Identifier: CA049663

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 263936
• ClinVar RCV Id: RCV000241864 ; RCV003995699 ; RCV003920012
• dbSNP Id: rs147111149
• ExAC: 3:30713353 C / T
• gnomAD v2: 3-30713353-C-T
• gnomAD v3: 3-30671861-C-T
• gnomAD v4: 3-30671861-C-T
• MyVariant Identifiers: chr3:g.30713353C>T (hg19) ; chr3:g.30671861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671861C>T , CM000665.2:g.30671861C>T	GRCh38
NC_000003.11:g.30713353C>T , CM000665.1:g.30713353C>T	GRCh37
NC_000003.10:g.30688357C>T	NCBI36
NG_007490.1:g.70360C>T , LRG_779:g.70360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.678C>T MANE Select	ENSP00000295754.5:p.Asp226=
ENST00000672866.1:n.2274C>T
ENST00000295754.9:c.678C>T	ENSP00000295754.5:p.Asp226=
ENST00000359013.4:c.753C>T	ENSP00000351905.4:p.Asp251=
NM_001024847.2:c.753C>T , LRG_779t1:c.753C>T	NP_001020018.1:p.Asp251=
NM_003242.5:c.678C>T	NP_003233.4:p.Asp226=
XM_011534043.1:c.705C>T	XP_011532345.1:p.Asp235=
XM_011534044.1:c.630C>T	XP_011532346.1:p.Asp210=
XM_011534045.1:c.573C>T	XP_011532347.1:p.Asp191=
XM_011534043.2:c.705C>T	XP_011532345.1:p.Asp235=
XM_011534045.3:c.573C>T	XP_011532347.1:p.Asp191=
XM_017007106.1:c.573C>T	XP_016862595.1:p.Asp191=
NM_003242.6:c.678C>T MANE Select	NP_003233.4:p.Asp226=