Canonical Allele Identifier: CA16604494

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 393155
• ClinVar RCV Id: RCV000426608 ; RCV001368997 ; RCV002289581
• dbSNP Id: rs104893813
• gnomAD v2: 3-30713738-G-A
• gnomAD v3: 3-30672246-G-A
• gnomAD v4: 3-30672246-G-A
• MyVariant Identifiers: chr3:g.30713738G>A (hg19) ; chr3:g.30672246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672246G>A , CM000665.2:g.30672246G>A	GRCh38
NC_000003.11:g.30713738G>A , CM000665.1:g.30713738G>A	GRCh37
NC_000003.10:g.30688742G>A	NCBI36
NG_007490.1:g.70745G>A , LRG_779:g.70745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1063G>A MANE Select	ENSP00000295754.5:p.Ala355Thr
ENST00000672866.1:n.2659G>A
ENST00000295754.9:c.1063G>A	ENSP00000295754.5:p.Ala355Thr
ENST00000359013.4:c.1138G>A	ENSP00000351905.4:p.Ala380Thr
NM_001024847.2:c.1138G>A , LRG_779t1:c.1138G>A	NP_001020018.1:p.Ala380Thr
NM_003242.5:c.1063G>A	NP_003233.4:p.Ala355Thr
XM_011534043.1:c.1090G>A	XP_011532345.1:p.Ala364Thr
XM_011534044.1:c.1015G>A	XP_011532346.1:p.Ala339Thr
XM_011534045.1:c.958G>A	XP_011532347.1:p.Ala320Thr
XM_011534043.2:c.1090G>A	XP_011532345.1:p.Ala364Thr
XM_011534045.3:c.958G>A	XP_011532347.1:p.Ala320Thr
XM_017007106.1:c.958G>A	XP_016862595.1:p.Ala320Thr
NM_003242.6:c.1063G>A MANE Select	NP_003233.4:p.Ala355Thr