Canonical Allele Identifier: CA048167
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs773255203
ExAC: 3:30648338 G / T
gnomAD v2: 3-30648338-G-T
gnomAD v3: 3-30606846-G-T
gnomAD v4: 3-30606846-G-T
MyVariant Identifiers: chr3:g.30648338G>T (hg19) chr3:g.30606846G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606846G>T , CM000665.2:g.30606846G>T GRCh38
NC_000003.11:g.30648338G>T , CM000665.1:g.30648338G>T GRCh37
NC_000003.10:g.30623342G>T NCBI36
NG_007490.1:g.5345G>T , LRG_779:g.5345G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-38G>T MANE Select ENSP00000295754.5:n.-38G>T
ENST00000295754.9:c.-38G>T ENSP00000295754.5:n.-38G>T
ENST00000359013.4:c.-38G>T ENSP00000351905.4:n.-38G>T
NM_001024847.2:c.-38G>T , LRG_779t1:c.-38G>T NP_001020018.1:n.-38G>T
NM_003242.5:c.-38G>T NP_003233.4:n.-38G>T
XM_011534045.1:c.-12+253G>T XP_011532347.1:n.-12+253G>T
XM_011534045.3:c.-12+253G>T XP_011532347.1:n.-12+253G>T
NM_003242.6:c.-38G>T MANE Select NP_003233.4:n.-38G>T
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