Canonical Allele Identifier: CA1398465
Community Standard Title: NM_003238.6(TGFB2):c.510+38_510+43dup
Gene: TGFB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218405370_218405375dup , CM000663.2:g.218405370_218405375dup GRCh38
NC_000001.10:g.218578712_218578717dup , CM000663.1:g.218578712_218578717dup GRCh37
NC_000001.9:g.216645335_216645340dup NCBI36
NG_027721.1:g.65037_65042dup
NG_027721.2:g.65037_65042dup

Transcript Alleles

HGVS Amino-acid Change
NM_003238.6:c.510+38_510+43dup MANE Select NP_003229.1:n.510+38_510+43dup
ENST00000366930.9:c.510+38_510+43dup MANE Select ENSP00000355897.4:n.510+38_510+43dup
NM_001135599.2:c.594+38_594+43dup NP_001129071.1:n.594+38_594+43dup
NM_001135599.3:c.594+38_594+43dup NP_001129071.1:n.594+38_594+43dup
NM_001135599.4:c.594+38_594+43dup NP_001129071.1:n.594+38_594+43dup
NM_003238.3:c.510+38_510+43dup NP_003229.1:n.510+38_510+43dup
NM_003238.4:c.510+38_510+43dup NP_003229.1:n.510+38_510+43dup
NM_003238.5:c.510+38_510+43dup NP_003229.1:n.510+38_510+43dup
NR_138148.1:n.1928+38_1928+43dup
NR_138148.2:n.1876+38_1876+43dup
NR_138149.1:n.2012+38_2012+43dup
NR_138149.2:n.1960+38_1960+43dup
ENST00000366929.4:c.594+38_594+43dup ENSP00000355896.4:n.594+38_594+43dup
ENST00000366930.8:c.510+38_510+43dup ENSP00000355897.4:n.510+38_510+43dup
ENST00000488793.1:n.174+38_174+43dup