Canonical Allele Identifier: CA050622

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 408434
• ClinVar RCV Id: RCV000462907 ; RCV000497514 ; RCV002272243 ; RCV002489047 ; RCV004022691
• dbSNP Id: rs375330013
• ExAC: 3:30686236 C / A
• gnomAD v2: 3-30686236-C-A
• gnomAD v3: 3-30644744-C-A
• gnomAD v4: 3-30644744-C-A
• MyVariant Identifiers: chr3:g.30686236C>A (hg19) ; chr3:g.30644744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30644744C>A , CM000665.2:g.30644744C>A	GRCh38
NC_000003.11:g.30686236C>A , CM000665.1:g.30686236C>A	GRCh37
NC_000003.10:g.30661240C>A	NCBI36
NG_007490.1:g.43243C>A , LRG_779:g.43243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.95-3C>A MANE Select	ENSP00000295754.5:n.95-3C>A
ENST00000672866.1:n.1691-3C>A
ENST00000673250.1:n.219-3C>A
ENST00000295754.9:c.95-3C>A	ENSP00000295754.5:n.95-3C>A
ENST00000359013.4:c.170-3C>A	ENSP00000351905.4:n.170-3C>A
NM_001024847.2:c.170-3C>A , LRG_779t1:c.170-3C>A	NP_001020018.1:n.170-3C>A
NM_003242.5:c.95-3C>A	NP_003233.4:n.95-3C>A
XM_011534043.1:c.122-3C>A	XP_011532345.1:n.122-3C>A
XM_011534044.1:c.47-3C>A	XP_011532346.1:n.47-3C>A
XM_011534045.1:c.-11-3C>A	XP_011532347.1:n.-11-3C>A
XM_011534043.2:c.122-3C>A	XP_011532345.1:n.122-3C>A
XM_011534045.3:c.-11-3C>A	XP_011532347.1:n.-11-3C>A
XM_017007106.1:c.-11-3C>A	XP_016862595.1:n.-11-3C>A
NM_003242.6:c.95-3C>A MANE Select	NP_003233.4:n.95-3C>A