Canonical Allele Identifier: CA2664866408
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606598-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606598G>T , CM000665.2:g.30606598G>T GRCh38
NC_000003.11:g.30648090G>T , CM000665.1:g.30648090G>T GRCh37
NC_000003.10:g.30623094G>T NCBI36
NG_007490.1:g.5097G>T , LRG_779:g.5097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.9:c.-286G>T ENSP00000295754.5:n.-286G>T
NM_001024847.2:c.-286G>T , LRG_779t1:c.-286G>T NP_001020018.1:n.-286G>T
NM_003242.5:c.-286G>T NP_003233.4:n.-286G>T
XM_011534045.1:c.-12+5G>T XP_011532347.1:n.-12+5G>T
XM_011534045.3:c.-12+5G>T XP_011532347.1:n.-12+5G>T
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