Canonical Allele Identifier: CA047468
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs763748763
ExAC: 3:30648354 A / G
gnomAD v2: 3-30648354-A-G
gnomAD v3: 3-30606862-A-G
gnomAD v4: 3-30606862-A-G
MyVariant Identifiers: chr3:g.30648354A>G (hg19) chr3:g.30606862A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606862A>G , CM000665.2:g.30606862A>G GRCh38
NC_000003.11:g.30648354A>G , CM000665.1:g.30648354A>G GRCh37
NC_000003.10:g.30623358A>G NCBI36
NG_007490.1:g.5361A>G , LRG_779:g.5361A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-22A>G MANE Select ENSP00000295754.5:n.-22A>G
ENST00000295754.9:c.-22A>G ENSP00000295754.5:n.-22A>G
ENST00000359013.4:c.-22A>G ENSP00000351905.4:n.-22A>G
NM_001024847.2:c.-22A>G , LRG_779t1:c.-22A>G NP_001020018.1:n.-22A>G
NM_003242.5:c.-22A>G NP_003233.4:n.-22A>G
XM_011534045.1:c.-12+269A>G XP_011532347.1:n.-12+269A>G
XM_011534045.3:c.-12+269A>G XP_011532347.1:n.-12+269A>G
NM_003242.6:c.-22A>G MANE Select NP_003233.4:n.-22A>G
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