Canonical Allele Identifier: CA047010

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 408435
• ClinVar RCV Id: RCV000469702 ; RCV002480399
• dbSNP Id: rs149847376
• ExAC: 3:30732934 C / T
• gnomAD v2: 3-30732934-C-T
• gnomAD v3: 3-30691442-C-T
• gnomAD v4: 3-30691442-C-T
• MyVariant Identifiers: chr3:g.30732934C>T (hg19) ; chr3:g.30691442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691442C>T , CM000665.2:g.30691442C>T	GRCh38
NC_000003.11:g.30732934C>T , CM000665.1:g.30732934C>T	GRCh37
NC_000003.10:g.30707938C>T	NCBI36
NG_007490.1:g.89941C>T , LRG_779:g.89941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1547C>T MANE Select	ENSP00000295754.5:p.Thr516Met
ENST00000672050.1:n.431C>T
ENST00000672866.1:n.3143C>T
ENST00000673203.1:n.425C>T
ENST00000295754.9:c.1547C>T	ENSP00000295754.5:p.Thr516Met
ENST00000359013.4:c.1622C>T	ENSP00000351905.4:p.Thr541Met
NM_001024847.2:c.1622C>T , LRG_779t1:c.1622C>T	NP_001020018.1:p.Thr541Met
NM_003242.5:c.1547C>T	NP_003233.4:p.Thr516Met
XM_011534043.1:c.1574C>T	XP_011532345.1:p.Thr525Met
XM_011534044.1:c.1499C>T	XP_011532346.1:p.Thr500Met
XM_011534045.1:c.1442C>T	XP_011532347.1:p.Thr481Met
XM_011534043.2:c.1574C>T	XP_011532345.1:p.Thr525Met
XM_011534045.3:c.1442C>T	XP_011532347.1:p.Thr481Met
XM_017007106.1:c.1442C>T	XP_016862595.1:p.Thr481Met
NM_003242.6:c.1547C>T MANE Select	NP_003233.4:p.Thr516Met