Canonical Allele Identifier: CA2664866462
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606651-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606651A>C , CM000665.2:g.30606651A>C GRCh38
NC_000003.11:g.30648143A>C , CM000665.1:g.30648143A>C GRCh37
NC_000003.10:g.30623147A>C NCBI36
NG_007490.1:g.5150A>C , LRG_779:g.5150A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-233A>C MANE Select ENSP00000295754.5:n.-233A>C
ENST00000295754.9:c.-233A>C ENSP00000295754.5:n.-233A>C
ENST00000359013.4:c.-233A>C ENSP00000351905.4:n.-233A>C
NM_001024847.2:c.-233A>C , LRG_779t1:c.-233A>C NP_001020018.1:n.-233A>C
NM_003242.5:c.-233A>C NP_003233.4:n.-233A>C
XM_011534045.1:c.-12+58A>C XP_011532347.1:n.-12+58A>C
XM_011534045.3:c.-12+58A>C XP_011532347.1:n.-12+58A>C
NM_003242.6:c.-233A>C MANE Select NP_003233.4:n.-233A>C
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