Canonical Allele Identifier: CA2664866754
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606890-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606895dup , CM000665.2:g.30606895dup GRCh38
NC_000003.11:g.30648387dup , CM000665.1:g.30648387dup GRCh37
NC_000003.10:g.30623391dup NCBI36
NG_007490.1:g.5394dup , LRG_779:g.5394dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.12dup MANE Select ENSP00000295754.5:p.Leu5AlafsTer29
ENST00000295754.9:c.12dup ENSP00000295754.5:p.Leu5AlafsTer29
ENST00000359013.4:c.12dup ENSP00000351905.4:p.Leu5AlafsTer?
NM_001024847.2:c.12dup , LRG_779t1:c.12dup NP_001020018.1:p.Leu5AlafsTer?
NM_003242.5:c.12dup NP_003233.4:p.Leu5AlafsTer29
XM_011534045.1:c.-12+302dup XP_011532347.1:n.-12+302dup
XM_011534045.3:c.-12+302dup XP_011532347.1:n.-12+302dup
NM_003242.6:c.12dup MANE Select NP_003233.4:p.Leu5AlafsTer29
Search 100 bp 5'
Search 100 bp 3'