Canonical Allele Identifier: CA906173294
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1157191070
gnomAD v4: 3-30606686-CG-C
MyVariant Identifiers: chr3:g.30648179del (hg19) chr3:g.30606687del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606691del , CM000665.2:g.30606691del GRCh38
NC_000003.11:g.30648183del , CM000665.1:g.30648183del GRCh37
NC_000003.10:g.30623187del NCBI36
NG_007490.1:g.5190del , LRG_779:g.5190del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-193del MANE Select ENSP00000295754.5:n.-193del
ENST00000295754.9:c.-193del ENSP00000295754.5:n.-193del
ENST00000359013.4:c.-193del ENSP00000351905.4:n.-193del
NM_001024847.2:c.-193del , LRG_779t1:c.-193del NP_001020018.1:n.-193del
NM_003242.5:c.-193del NP_003233.4:n.-193del
XM_011534045.1:c.-12+98del XP_011532347.1:n.-12+98del
XM_011534045.3:c.-12+98del XP_011532347.1:n.-12+98del
NM_003242.6:c.-193del MANE Select NP_003233.4:n.-193del
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