Canonical Allele Identifier: CA351830489
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2788829
ClinVar RCV Id: RCV003643231
dbSNP Id: rs1697932736
gnomAD v4: 3-30606903-G-A
MyVariant Identifiers: chr3:g.30648395G>A (hg19) chr3:g.30606903G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606903G>A , CM000665.2:g.30606903G>A GRCh38
NC_000003.11:g.30648395G>A , CM000665.1:g.30648395G>A GRCh37
NC_000003.10:g.30623399G>A NCBI36
NG_007490.1:g.5402G>A , LRG_779:g.5402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.20G>A MANE Select ENSP00000295754.5:p.Arg7Lys
ENST00000295754.9:c.20G>A ENSP00000295754.5:p.Arg7Lys
ENST00000359013.4:c.20G>A ENSP00000351905.4:p.Arg7Lys
NM_001024847.2:c.20G>A , LRG_779t1:c.20G>A NP_001020018.1:p.Arg7Lys
NM_003242.5:c.20G>A NP_003233.4:p.Arg7Lys
XM_011534045.1:c.-12+310G>A XP_011532347.1:n.-12+310G>A
XM_011534045.3:c.-12+310G>A XP_011532347.1:n.-12+310G>A
NM_003242.6:c.20G>A MANE Select NP_003233.4:p.Arg7Lys
Search 100 bp 5'
Search 100 bp 3'