Canonical Allele Identifier: CA2739275664
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2845458
ClinVar RCV Id: RCV003648453

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346992_218346994dup , CM000663.2:g.218346992_218346994dup GRCh38
NC_000001.10:g.218520334_218520336dup , CM000663.1:g.218520334_218520336dup GRCh37
NC_000001.9:g.216586957_216586959dup NCBI36
NG_027721.1:g.6659_6661dup
NG_027721.2:g.6659_6661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.291_293dup MANE Select ENSP00000355897.4:p.Tyr98Ter
ENST00000366929.4:c.291_293dup ENSP00000355896.4:p.Tyr98Ter
ENST00000366930.8:c.291_293dup ENSP00000355897.4:p.Tyr98Ter
NM_001135599.2:c.291_293dup NP_001129071.1:p.Tyr98Ter
NM_003238.3:c.291_293dup NP_003229.1:p.Tyr98Ter
NM_001135599.3:c.291_293dup NP_001129071.1:p.Tyr98Ter
NM_003238.4:c.291_293dup NP_003229.1:p.Tyr98Ter
NR_138148.1:n.1709_1711dup
NR_138149.1:n.1709_1711dup
NM_003238.5:c.291_293dup NP_003229.1:p.Tyr98Ter
NM_003238.6:c.291_293dup MANE Select NP_003229.1:p.Tyr98Ter
NM_001135599.4:c.291_293dup NP_001129071.1:p.Tyr98Ter
NR_138148.2:n.1657_1659dup
NR_138149.2:n.1657_1659dup