Canonical Allele Identifier: CA050149

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213906
• ClinVar RCV Id: RCV000198185 ; RCV000296285 ; RCV000348846 ; RCV000388377 ; RCV003996924
• dbSNP Id: rs146030104
• ExAC: 3:30713590 C / T
• gnomAD v2: 3-30713590-C-T
• gnomAD v3: 3-30672098-C-T
• gnomAD v4: 3-30672098-C-T
• MyVariant Identifiers: chr3:g.30713590C>T (hg19) ; chr3:g.30672098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672098C>T , CM000665.2:g.30672098C>T	GRCh38
NC_000003.11:g.30713590C>T , CM000665.1:g.30713590C>T	GRCh37
NC_000003.10:g.30688594C>T	NCBI36
NG_007490.1:g.70597C>T , LRG_779:g.70597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.915C>T MANE Select	ENSP00000295754.5:p.Leu305=
ENST00000672866.1:n.2511C>T
ENST00000295754.9:c.915C>T	ENSP00000295754.5:p.Leu305=
ENST00000359013.4:c.990C>T	ENSP00000351905.4:p.Leu330=
NM_001024847.2:c.990C>T , LRG_779t1:c.990C>T	NP_001020018.1:p.Leu330=
NM_003242.5:c.915C>T	NP_003233.4:p.Leu305=
XM_011534043.1:c.942C>T	XP_011532345.1:p.Leu314=
XM_011534044.1:c.867C>T	XP_011532346.1:p.Leu289=
XM_011534045.1:c.810C>T	XP_011532347.1:p.Leu270=
XM_011534043.2:c.942C>T	XP_011532345.1:p.Leu314=
XM_011534045.3:c.810C>T	XP_011532347.1:p.Leu270=
XM_017007106.1:c.810C>T	XP_016862595.1:p.Leu270=
NM_003242.6:c.915C>T MANE Select	NP_003233.4:p.Leu305=