Canonical Allele Identifier: CA10618391
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 344654
ClinVar RCV Id: RCV000275823 RCV000296967 RCV000354124
dbSNP Id: rs886058302
gnomAD v2: 3-30648259-G-A
gnomAD v3: 3-30606767-G-A
gnomAD v4: 3-30606767-G-A
MyVariant Identifiers: chr3:g.30648259G>A (hg19) chr3:g.30606767G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606767G>A , CM000665.2:g.30606767G>A GRCh38
NC_000003.11:g.30648259G>A , CM000665.1:g.30648259G>A GRCh37
NC_000003.10:g.30623263G>A NCBI36
NG_007490.1:g.5266G>A , LRG_779:g.5266G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.-117G>A MANE Select ENSP00000295754.5:n.-117G>A
ENST00000295754.9:c.-117G>A ENSP00000295754.5:n.-117G>A
ENST00000359013.4:c.-117G>A ENSP00000351905.4:n.-117G>A
NM_001024847.2:c.-117G>A , LRG_779t1:c.-117G>A NP_001020018.1:n.-117G>A
NM_003242.5:c.-117G>A NP_003233.4:n.-117G>A
XM_011534045.1:c.-12+174G>A XP_011532347.1:n.-12+174G>A
XM_011534045.3:c.-12+174G>A XP_011532347.1:n.-12+174G>A
NM_003242.6:c.-117G>A MANE Select NP_003233.4:n.-117G>A
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