Canonical Allele Identifier: CA362161749

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2419762
• ClinVar RCV Id: RCV003115647
• dbSNP Id: rs984722259
• MyVariant Identifiers: chr5:g.172660053G>C (hg19) ; chr5:g.173233050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233050G>C , CM000667.2:g.173233050G>C	GRCh38
NC_000005.9:g.172660053G>C , CM000667.1:g.172660053G>C	GRCh37
NC_000005.8:g.172592659G>C	NCBI36
NG_013340.1:g.7263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.494C>G MANE Select	ENSP00000327758.4:p.Ala165Gly
ENST00000329198.4:c.494C>G	ENSP00000327758.4:p.Ala165Gly
ENST00000424406.2:c.*447C>G	ENSP00000395378.2:n.*447C>G
ENST00000521848.1:c.*293C>G	ENSP00000427906.1:n.*293C>G
NM_001166175.1:c.*447C>G	NP_001159647.1:n.*447C>G
NM_001166176.1:c.*293C>G	NP_001159648.1:n.*293C>G
NM_004387.3:c.494C>G	NP_004378.1:p.Ala165Gly
NM_004387.4:c.494C>G MANE Select	NP_004378.1:p.Ala165Gly
NM_001166175.2:c.*447C>G	NP_001159647.1:n.*447C>G
NM_001166176.2:c.*293C>G	NP_001159648.1:n.*293C>G