Canonical Allele Identifier: CA050358
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 378727
ClinVar RCV Id: RCV000424751 RCV000769347 RCV001579668 RCV003902487 RCV004022299
dbSNP Id: rs61732532
ExAC: 3:30664714 G / A
gnomAD v2: 3-30664714-G-A
gnomAD v3: 3-30623222-G-A
gnomAD v4: 3-30623222-G-A
MyVariant Identifiers: chr3:g.30664714G>A (hg19) chr3:g.30623222G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30623222G>A , CM000665.2:g.30623222G>A GRCh38
NC_000003.11:g.30664714G>A , CM000665.1:g.30664714G>A GRCh37
NC_000003.10:g.30639718G>A NCBI36
NG_007490.1:g.21721G>A , LRG_779:g.21721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+16245G>A MANE Select ENSP00000295754.5:n.94+16245G>A
ENST00000673250.1:n.167G>A
ENST00000295754.9:c.94+16245G>A ENSP00000295754.5:n.94+16245G>A
ENST00000359013.4:c.118G>A ENSP00000351905.4:p.Asp40Asn
NM_001024847.2:c.118G>A , LRG_779t1:c.118G>A NP_001020018.1:p.Asp40Asn
NM_003242.5:c.94+16245G>A NP_003233.4:n.94+16245G>A
XM_011534043.1:c.70G>A XP_011532345.1:p.Asp24Asn
XM_011534044.1:c.46+8516G>A XP_011532346.1:n.46+8516G>A
XM_011534045.1:c.-12+16629G>A XP_011532347.1:n.-12+16629G>A
XM_011534043.2:c.70G>A XP_011532345.1:p.Asp24Asn
XM_011534045.3:c.-12+16629G>A XP_011532347.1:n.-12+16629G>A
NM_003242.6:c.94+16245G>A MANE Select NP_003233.4:n.94+16245G>A
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