Canonical Allele Identifier: CA362161774

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1460802
• ClinVar RCV Id: RCV001951742
• dbSNP Id: rs2113901789
• MyVariant Identifiers: chr5:g.172660066G>C (hg19) ; chr5:g.173233063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233063G>C , CM000667.2:g.173233063G>C	GRCh38
NC_000005.9:g.172660066G>C , CM000667.1:g.172660066G>C	GRCh37
NC_000005.8:g.172592672G>C	NCBI36
NG_013340.1:g.7250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.481C>G MANE Select	ENSP00000327758.4:p.Arg161Gly
ENST00000329198.4:c.481C>G	ENSP00000327758.4:p.Arg161Gly
ENST00000424406.2:c.*434C>G	ENSP00000395378.2:n.*434C>G
ENST00000521848.1:c.*280C>G	ENSP00000427906.1:n.*280C>G
NM_001166175.1:c.*434C>G	NP_001159647.1:n.*434C>G
NM_001166176.1:c.*280C>G	NP_001159648.1:n.*280C>G
NM_004387.3:c.481C>G	NP_004378.1:p.Arg161Gly
NM_004387.4:c.481C>G MANE Select	NP_004378.1:p.Arg161Gly
NM_001166175.2:c.*434C>G	NP_001159647.1:n.*434C>G
NM_001166176.2:c.*280C>G	NP_001159648.1:n.*280C>G