Canonical Allele Identifier: CA045468
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 432420
ClinVar RCV Id: RCV000498047 RCV000809072 RCV004003501
dbSNP Id: rs369450067
ExAC: 3:30713718 G / A
gnomAD v2: 3-30713718-G-A
gnomAD v3: 3-30672226-G-A
gnomAD v4: 3-30672226-G-A
COSMIC: COSM1043521 COSM1593587
MyVariant Identifiers: chr3:g.30713718G>A (hg19) chr3:g.30672226G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672226G>A , CM000665.2:g.30672226G>A GRCh38
NC_000003.11:g.30713718G>A , CM000665.1:g.30713718G>A GRCh37
NC_000003.10:g.30688722G>A NCBI36
NG_007490.1:g.70725G>A , LRG_779:g.70725G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1043G>A MANE Select ENSP00000295754.5:p.Arg348His
ENST00000672866.1:n.2639G>A
ENST00000295754.9:c.1043G>A ENSP00000295754.5:p.Arg348His
ENST00000359013.4:c.1118G>A ENSP00000351905.4:p.Arg373His
NM_001024847.2:c.1118G>A , LRG_779t1:c.1118G>A NP_001020018.1:p.Arg373His
NM_003242.5:c.1043G>A NP_003233.4:p.Arg348His
XM_011534043.1:c.1070G>A XP_011532345.1:p.Arg357His
XM_011534044.1:c.995G>A XP_011532346.1:p.Arg332His
XM_011534045.1:c.938G>A XP_011532347.1:p.Arg313His
XM_011534043.2:c.1070G>A XP_011532345.1:p.Arg357His
XM_011534045.3:c.938G>A XP_011532347.1:p.Arg313His
XM_017007106.1:c.938G>A XP_016862595.1:p.Arg313His
NM_003242.6:c.1043G>A MANE Select NP_003233.4:p.Arg348His
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