Canonical Allele Identifier: CA72289955
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3029301
ClinVar RCV Id: RCV003896407
dbSNP Id: rs903936503
gnomAD v2: 3-30648310-A-G
gnomAD v3: 3-30606818-A-G
gnomAD v4: 3-30606818-A-G
MyVariant Identifiers: chr3:g.30648310A>G (hg19) chr3:g.30606818A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606818A>G , CM000665.2:g.30606818A>G GRCh38
NC_000003.11:g.30648310A>G , CM000665.1:g.30648310A>G GRCh37
NC_000003.10:g.30623314A>G NCBI36
NG_007490.1:g.5317A>G , LRG_779:g.5317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-66A>G MANE Select ENSP00000295754.5:n.-66A>G
ENST00000295754.9:c.-66A>G ENSP00000295754.5:n.-66A>G
ENST00000359013.4:c.-66A>G ENSP00000351905.4:n.-66A>G
NM_001024847.2:c.-66A>G , LRG_779t1:c.-66A>G NP_001020018.1:n.-66A>G
NM_003242.5:c.-66A>G NP_003233.4:n.-66A>G
XM_011534045.1:c.-12+225A>G XP_011532347.1:n.-12+225A>G
XM_011534045.3:c.-12+225A>G XP_011532347.1:n.-12+225A>G
NM_003242.6:c.-66A>G MANE Select NP_003233.4:n.-66A>G
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