Canonical Allele Identifier: CA347831408
Gene: CNGA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.99006119A>G (hg19) chr2:g.98389656A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98389656A>G , CM000664.2:g.98389656A>G GRCh38
NC_000002.11:g.99006119A>G , CM000664.1:g.99006119A>G GRCh37
NC_000002.10:g.98372551A>G NCBI36
NG_009097.1:g.48502A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272602.7:c.450-2A>G MANE Select ENSP00000272602.2:n.450-2A>G
ENST00000272602.6:c.450-2A>G ENSP00000272602.2:n.450-2A>G
ENST00000393503.2:n.455-2A>G
ENST00000393504.5:c.450-2A>G ENSP00000377140.1:n.450-2A>G
ENST00000409937.1:c.462-2A>G ENSP00000386761.1:n.462-2A>G
ENST00000436404.6:c.396-2A>G ENSP00000410070.2:n.396-2A>G
NM_001079878.1:c.396-2A>G NP_001073347.1:n.396-2A>G
NM_001298.2:c.450-2A>G NP_001289.1:n.450-2A>G
XM_006712243.2:c.561-2A>G XP_006712306.1:n.561-2A>G
XM_011510554.1:c.615-2A>G XP_011508856.1:n.615-2A>G
XM_011510554.2:c.615-2A>G XP_011508856.1:n.615-2A>G
NM_001079878.2:c.396-2A>G NP_001073347.1:n.396-2A>G
NM_001298.3:c.450-2A>G MANE Select NP_001289.1:n.450-2A>G
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