Canonical Allele Identifier: CA3732792

Gene: TNXB

Linked Data

• ClinVar Variation Id: 449837
• ClinVar RCV Id: RCV000519700 ; RCV003333074 ; RCV003979934
• dbSNP Id: rs545719209
• ExAC: 6:32009787 A / G
• gnomAD v2: 6-32009787-A-G
• gnomAD v3: 6-32042010-A-G
• gnomAD v4: 6-32042010-A-G
• MyVariant Identifiers: chr6:g.32009787A>G (hg19) ; chr6:g.32042010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32042010A>G , CM000668.2:g.32042010A>G	GRCh38
NC_000006.11:g.32009787A>G , CM000668.1:g.32009787A>G	GRCh37
NC_000006.10:g.32117766A>G	NCBI36
NG_007941.2:g.8703A>G
NG_008337.2:g.72365T>C
NG_007941.3:g.8706A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644971.2:c.12469+2T>C MANE Select	ENSP00000496448.1:n.12469+2T>C
ENST00000647633.1:c.13210+2T>C	ENSP00000497649.1:n.13210+2T>C
ENST00000375244.7:c.12469+2T>C	ENSP00000364393.3:n.12469+2T>C
ENST00000451343.4:c.1756+2T>C	ENSP00000407685.1:n.1756+2T>C
ENST00000490077.5:n.2296+2T>C
ENST00000611016.2:c.5623+2T>C	ENSP00000483409.1:n.5623+2T>C
NM_019105.6:c.12463+2T>C	NP_061978.6:n.12463+2T>C
NM_032470.3:c.1756+2T>C	NP_115859.2:n.1756+2T>C
NM_001365276.1:c.12469+2T>C	NP_001352205.1:n.12469+2T>C
NM_019105.7:c.12463+2T>C	NP_061978.6:n.12463+2T>C
NM_001365276.2:c.12469+2T>C MANE Select	NP_001352205.1:n.12469+2T>C
NM_019105.8:c.12463+2T>C	NP_061978.6:n.12463+2T>C
NM_032470.4:c.1756+2T>C	NP_115859.2:n.1756+2T>C