Canonical Allele Identifier: CA2147722585
Community Standard Title: NM_003239.5(TGFB3):c.754+2T=

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75965586A= , CM000676.2:g.75965586A= GRCh38
NC_000014.8:g.76431929A= , CM000676.1:g.76431929A= GRCh37
NC_000014.7:g.75501682A= NCBI36
NG_011715.1:g.21164T= , LRG_399:g.21164T=

Transcript Alleles

HGVS Amino-acid Change
NM_003239.5:c.754+2T= (TGFB3) MANE Select NP_003230.1:n.754+2T=
ENST00000238682.8:c.754+2T= (TGFB3) MANE Select ENSP00000238682.3:n.754+2T=
NM_001329938.1:c.754+2T= (TGFB3) NP_001316867.1:n.754+2T=
NM_001329938.2:c.754+2T= (TGFB3) NP_001316867.1:n.754+2T=
NM_001329939.1:c.754+2T= (TGFB3) NP_001316868.1:n.754+2T=
NM_001329939.2:c.754+2T= (TGFB3) NP_001316868.1:n.754+2T=
NM_003239.3:c.754+2T= (TGFB3) NP_003230.1:n.754+2T=
NM_003239.4:c.754+2T= (TGFB3) NP_003230.1:n.754+2T=
ENST00000238682.7:c.754+2T= (TGFB3) ENSP00000238682.3:n.754+2T=
ENST00000554980.5:n.1135+2T= (TGFB3)
ENST00000555677.5:n.90-23299A= (IFT43)
ENST00000556285.1:c.754+2T= (TGFB3) ENSP00000451110.1:n.754+2T=
ENST00000556674.2:c.754+2T= (TGFB3) ENSP00000502685.1:n.754+2T=
ENST00000557493.1:n.220+2T= (TGFB3)
XM_005268028.1:c.754+2T= (TGFB3) XP_005268085.1:n.754+2T=