Canonical Allele Identifier: CA362161638

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1747918
• ClinVar RCV Id: RCV002351608 ; RCV003619774
• MyVariant Identifiers: chr5:g.172659998C>G (hg19) ; chr5:g.173232995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232995C>G , CM000667.2:g.173232995C>G	GRCh38
NC_000005.9:g.172659998C>G , CM000667.1:g.172659998C>G	GRCh37
NC_000005.8:g.172592604C>G	NCBI36
NG_013340.1:g.7318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.549G>C MANE Select	ENSP00000327758.4:p.Lys183Asn
ENST00000329198.4:c.549G>C	ENSP00000327758.4:p.Lys183Asn
ENST00000424406.2:c.*502G>C	ENSP00000395378.2:n.*502G>C
ENST00000521848.1:c.*348G>C	ENSP00000427906.1:n.*348G>C
NM_001166175.1:c.*502G>C	NP_001159647.1:n.*502G>C
NM_001166176.1:c.*348G>C	NP_001159648.1:n.*348G>C
NM_004387.3:c.549G>C	NP_004378.1:p.Lys183Asn
NM_004387.4:c.549G>C MANE Select	NP_004378.1:p.Lys183Asn
NM_001166175.2:c.*502G>C	NP_001159647.1:n.*502G>C
NM_001166176.2:c.*348G>C	NP_001159648.1:n.*348G>C