Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA625381552

Gene: NOS2 HGNC NCBI

Linked Data

dbSNP Id: rs1163126212

gnomAD v2: 17-26128603-T-C

MyVariant Identifiers: chr17:g.26128603T>C (hg19) chr17:g.27801577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27801577T>C , CM000679.2:g.27801577T>C	GRCh38
NC_000017.10:g.26128603T>C , CM000679.1:g.26128603T>C	GRCh37
NC_000017.9:g.23152730T>C	NCBI36
NG_011470.1:g.3953A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000582441.1:c.438+2546A>G	ENSP00000462879.1:n.438+2546A>G
XM_011524859.1:c.-74+2546A>G	XP_011523161.1:n.-74+2546A>G

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