Canonical Allele Identifier: CA351808352
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30672189T>G
GRCh37 chr3:g.30713681T>G
Revel Score:
ENST00000295754 (MANE Select) 0.915
ENST00000359013 0.915
ENST00000439925 0.915
ClinVar Allele:
452038
ClinVar RCV:
RCV000546745
ClinVar Variation:
477532
dbSNP:
104893812
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672189T>G , CM000665.2:g.30672189T>G GRCh38
NC_000003.11:g.30713681T>G , CM000665.1:g.30713681T>G GRCh37
NC_000003.10:g.30688685T>G NCBI36
NG_007490.1:g.70688T>G , LRG_779:g.70688T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1006T>G MANE Select ENSP00000295754.5:p.Tyr336Asp
ENST00000672866.1:n.2602T>G
ENST00000295754.9:c.1006T>G ENSP00000295754.5:p.Tyr336Asp
ENST00000359013.4:c.1081T>G ENSP00000351905.4:p.Tyr361Asp
NM_001024847.2:c.1081T>G , LRG_779t1:c.1081T>G NP_001020018.1:p.Tyr361Asp
NM_003242.5:c.1006T>G NP_003233.4:p.Tyr336Asp
XM_011534043.1:c.1033T>G XP_011532345.1:p.Tyr345Asp
XM_011534044.1:c.958T>G XP_011532346.1:p.Tyr320Asp
XM_011534045.1:c.901T>G XP_011532347.1:p.Tyr301Asp
XM_011534043.2:c.1033T>G XP_011532345.1:p.Tyr345Asp
XM_011534045.3:c.901T>G XP_011532347.1:p.Tyr301Asp
XM_017007106.1:c.901T>G XP_016862595.1:p.Tyr301Asp
NM_003242.6:c.1006T>G MANE Select NP_003233.4:p.Tyr336Asp
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