Canonical Allele Identifier: CA049703
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 344658
ClinVar RCV Id: RCV000266417 RCV000363353 RCV001171831 RCV000323947 RCV003995878
dbSNP Id: rs201560560
ExAC: 3:30713365 G / A
gnomAD v2: 3-30713365-G-A
gnomAD v3: 3-30671873-G-A
gnomAD v4: 3-30671873-G-A
MyVariant Identifiers: chr3:g.30713365G>A (hg19) chr3:g.30671873G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671873G>A , CM000665.2:g.30671873G>A GRCh38
NC_000003.11:g.30713365G>A , CM000665.1:g.30713365G>A GRCh37
NC_000003.10:g.30688369G>A NCBI36
NG_007490.1:g.70372G>A , LRG_779:g.70372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.690G>A MANE Select ENSP00000295754.5:p.Thr230=
ENST00000672866.1:n.2286G>A
ENST00000295754.9:c.690G>A ENSP00000295754.5:p.Thr230=
ENST00000359013.4:c.765G>A ENSP00000351905.4:p.Thr255=
NM_001024847.2:c.765G>A , LRG_779t1:c.765G>A NP_001020018.1:p.Thr255=
NM_003242.5:c.690G>A NP_003233.4:p.Thr230=
XM_011534043.1:c.717G>A XP_011532345.1:p.Thr239=
XM_011534044.1:c.642G>A XP_011532346.1:p.Thr214=
XM_011534045.1:c.585G>A XP_011532347.1:p.Thr195=
XM_011534043.2:c.717G>A XP_011532345.1:p.Thr239=
XM_011534045.3:c.585G>A XP_011532347.1:p.Thr195=
XM_017007106.1:c.585G>A XP_016862595.1:p.Thr195=
NM_003242.6:c.690G>A MANE Select NP_003233.4:p.Thr230=
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