Canonical Allele Identifier: CA2664866755
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606902-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606906del , CM000665.2:g.30606906del GRCh38
NC_000003.11:g.30648398del , CM000665.1:g.30648398del GRCh37
NC_000003.10:g.30623402del NCBI36
NG_007490.1:g.5405del , LRG_779:g.5405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.23del MANE Select ENSP00000295754.5:p.Gly8AlafsTer29
ENST00000295754.9:c.23del ENSP00000295754.5:p.Gly8AlafsTer29
ENST00000359013.4:c.23del ENSP00000351905.4:p.Gly8AlafsTer?
NM_001024847.2:c.23del , LRG_779t1:c.23del NP_001020018.1:p.Gly8AlafsTer?
NM_003242.5:c.23del NP_003233.4:p.Gly8AlafsTer29
XM_011534045.1:c.-12+313del XP_011532347.1:n.-12+313del
XM_011534045.3:c.-12+313del XP_011532347.1:n.-12+313del
NM_003242.6:c.23del MANE Select NP_003233.4:p.Gly8AlafsTer29
Search 100 bp 5'
Search 100 bp 3'