Canonical Allele Identifier: CA045783

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 263878
• ClinVar RCV Id: RCV000250474 ; RCV000822694 ; RCV002466481 ; RCV002503959 ; RCV003995695
• dbSNP Id: rs137908708
• ExAC: 3:30713828 A / G
• gnomAD v2: 3-30713828-A-G
• gnomAD v3: 3-30672336-A-G
• gnomAD v4: 3-30672336-A-G
• MyVariant Identifiers: chr3:g.30713828A>G (hg19) ; chr3:g.30672336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672336A>G , CM000665.2:g.30672336A>G	GRCh38
NC_000003.11:g.30713828A>G , CM000665.1:g.30713828A>G	GRCh37
NC_000003.10:g.30688832A>G	NCBI36
NG_007490.1:g.70835A>G , LRG_779:g.70835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1153A>G MANE Select	ENSP00000295754.5:p.Ile385Val
ENST00000672866.1:n.2749A>G
ENST00000295754.9:c.1153A>G	ENSP00000295754.5:p.Ile385Val
ENST00000359013.4:c.1228A>G	ENSP00000351905.4:p.Ile410Val
NM_001024847.2:c.1228A>G , LRG_779t1:c.1228A>G	NP_001020018.1:p.Ile410Val
NM_003242.5:c.1153A>G	NP_003233.4:p.Ile385Val
XM_011534043.1:c.1180A>G	XP_011532345.1:p.Ile394Val
XM_011534044.1:c.1105A>G	XP_011532346.1:p.Ile369Val
XM_011534045.1:c.1048A>G	XP_011532347.1:p.Ile350Val
XM_011534043.2:c.1180A>G	XP_011532345.1:p.Ile394Val
XM_011534045.3:c.1048A>G	XP_011532347.1:p.Ile350Val
XM_017007106.1:c.1048A>G	XP_016862595.1:p.Ile350Val
NM_003242.6:c.1153A>G MANE Select	NP_003233.4:p.Ile385Val