Canonical Allele Identifier: CA046803

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2142430
• ClinVar RCV Id: RCV003059061
• dbSNP Id: rs751132952
• ExAC: 3:30730012 TGA / T
• gnomAD v2: 3-30730012-TGA-T
• gnomAD v3: 3-30688520-TGA-T
• gnomAD v4: 3-30688520-TGA-T
• MyVariant Identifiers: chr3:g.30730013_30730014del (hg19) ; chr3:g.30688521_30688522del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688522_30688523del , CM000665.2:g.30688522_30688523del	GRCh38
NC_000003.11:g.30730014_30730015del , CM000665.1:g.30730014_30730015del	GRCh37
NC_000003.10:g.30705018_30705019del	NCBI36
NG_007490.1:g.87021_87022del , LRG_779:g.87021_87022del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1524+11_1524+12del MANE Select	ENSP00000295754.5:n.1524+11_1524+12del
ENST00000672050.1:n.408+11_408+12del
ENST00000672866.1:n.3120+11_3120+12del
ENST00000673203.1:n.402+11_402+12del
ENST00000295754.9:c.1524+11_1524+12del	ENSP00000295754.5:n.1524+11_1524+12del
ENST00000359013.4:c.1599+11_1599+12del	ENSP00000351905.4:n.1599+11_1599+12del
NM_001024847.2:c.1599+11_1599+12del , LRG_779t1:c.1599+11_1599+12del	NP_001020018.1:n.1599+11_1599+12del
NM_003242.5:c.1524+11_1524+12del	NP_003233.4:n.1524+11_1524+12del
XM_011534043.1:c.1551+11_1551+12del	XP_011532345.1:n.1551+11_1551+12del
XM_011534044.1:c.1476+11_1476+12del	XP_011532346.1:n.1476+11_1476+12del
XM_011534045.1:c.1419+11_1419+12del	XP_011532347.1:n.1419+11_1419+12del
XM_011534043.2:c.1551+11_1551+12del	XP_011532345.1:n.1551+11_1551+12del
XM_011534045.3:c.1419+11_1419+12del	XP_011532347.1:n.1419+11_1419+12del
XM_017007106.1:c.1419+11_1419+12del	XP_016862595.1:n.1419+11_1419+12del
NM_003242.6:c.1524+11_1524+12del MANE Select	NP_003233.4:n.1524+11_1524+12del