Canonical Allele Identifier: CA351808401

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2653640
• ClinVar RCV Id: RCV003437739
• gnomAD v4: 3-30672215-G-A
• MyVariant Identifiers: chr3:g.30713707G>A (hg19) ; chr3:g.30672215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672215G>A , CM000665.2:g.30672215G>A	GRCh38
NC_000003.11:g.30713707G>A , CM000665.1:g.30713707G>A	GRCh37
NC_000003.10:g.30688711G>A	NCBI36
NG_007490.1:g.70714G>A , LRG_779:g.70714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1032G>A MANE Select	ENSP00000295754.5:p.Trp344Ter
ENST00000672866.1:n.2628G>A
ENST00000295754.9:c.1032G>A	ENSP00000295754.5:p.Trp344Ter
ENST00000359013.4:c.1107G>A	ENSP00000351905.4:p.Trp369Ter
NM_001024847.2:c.1107G>A , LRG_779t1:c.1107G>A	NP_001020018.1:p.Trp369Ter
NM_003242.5:c.1032G>A	NP_003233.4:p.Trp344Ter
XM_011534043.1:c.1059G>A	XP_011532345.1:p.Trp353Ter
XM_011534044.1:c.984G>A	XP_011532346.1:p.Trp328Ter
XM_011534045.1:c.927G>A	XP_011532347.1:p.Trp309Ter
XM_011534043.2:c.1059G>A	XP_011532345.1:p.Trp353Ter
XM_011534045.3:c.927G>A	XP_011532347.1:p.Trp309Ter
XM_017007106.1:c.927G>A	XP_016862595.1:p.Trp309Ter
NM_003242.6:c.1032G>A MANE Select	NP_003233.4:p.Trp344Ter