Canonical Allele Identifier: CA2697546580
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2726504
ClinVar RCV Id: RCV003511220
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233002dup , CM000667.2:g.173233002dup GRCh38
NC_000005.9:g.172660005dup , CM000667.1:g.172660005dup GRCh37
NC_000005.8:g.172592611dup NCBI36
NG_013340.1:g.7311dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.542dup MANE Select ENSP00000327758.4:p.Val182GlyfsTer?
ENST00000329198.4:c.542dup ENSP00000327758.4:p.Val182GlyfsTer?
ENST00000424406.2:c.*495dup ENSP00000395378.2:n.*495dup
ENST00000521848.1:c.*341dup ENSP00000427906.1:n.*341dup
NM_001166175.1:c.*495dup NP_001159647.1:n.*495dup
NM_001166176.1:c.*341dup NP_001159648.1:n.*341dup
NM_004387.3:c.542dup NP_004378.1:p.Val182GlyfsTer?
NM_004387.4:c.542dup MANE Select NP_004378.1:p.Val182GlyfsTer?
NM_001166175.2:c.*495dup NP_001159647.1:n.*495dup
NM_001166176.2:c.*341dup NP_001159648.1:n.*341dup
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Search 100 bp 3'