Canonical Allele Identifier: CA10087956
Community Standard Title: NM_001282225.2(ADA2):c.1082-2A>G
Gene: ADA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17182763T>C , CM000684.2:g.17182763T>C GRCh38
NC_000022.10:g.17663653T>C , CM000684.1:g.17663653T>C GRCh37
NC_000022.9:g.16043653T>C NCBI36
NG_033943.1:g.44092A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001282225.2:c.1082-2A>G MANE Select NP_001269154.1:n.1082-2A>G
ENST00000399837.8:c.1082-2A>G MANE Select ENSP00000382731.2:n.1082-2A>G
NM_001282225.1:c.1082-2A>G NP_001269154.1:n.1082-2A>G
NM_001282226.1:c.1082-2A>G NP_001269155.1:n.1082-2A>G
NM_001282226.2:c.1082-2A>G NP_001269155.1:n.1082-2A>G
NM_001282227.1:c.956-2A>G NP_001269156.1:n.956-2A>G
NM_001282227.2:c.956-2A>G NP_001269156.1:n.956-2A>G
NM_001282228.1:c.956-2A>G NP_001269157.1:n.956-2A>G
NM_001282228.2:c.956-2A>G NP_001269157.1:n.956-2A>G
NM_001282229.1:c.722-2A>G NP_001269158.1:n.722-2A>G
NM_001282229.2:c.722-2A>G NP_001269158.1:n.722-2A>G
NM_177405.2:c.359-2A>G NP_803124.1:n.359-2A>G
NM_177405.3:c.359-2A>G NP_803124.1:n.359-2A>G
ENST00000262607.3:c.1082-2A>G ENSP00000262607.2:n.1082-2A>G
ENST00000330232.8:c.359-2A>G ENSP00000332871.4:n.359-2A>G
ENST00000330232.9:c.359-2A>G ENSP00000332871.4:n.359-2A>G
ENST00000399837.6:c.1082-2A>G ENSP00000382731.2:n.1082-2A>G
ENST00000399839.5:c.1082-2A>G ENSP00000382733.1:n.1082-2A>G
ENST00000449907.6:c.956-2A>G ENSP00000406443.2:n.956-2A>G
ENST00000449907.7:c.956-2A>G ENSP00000406443.2:n.956-2A>G
ENST00000449907.8:c.956-2A>G ENSP00000406443.2:n.956-2A>G
ENST00000469063.1:n.390-2A>G
ENST00000469063.2:n.970-2A>G
ENST00000543038.2:c.1082-2A>G ENSP00000442482.2:n.1082-2A>G
ENST00000610390.4:c.722-2A>G ENSP00000483418.1:n.722-2A>G
ENST00000610390.5:c.722-2A>G ENSP00000483418.1:n.722-2A>G
ENST00000648061.1:c.*58-2A>G ENSP00000496894.1:n.*58-2A>G
ENST00000648061.2:c.*58-2A>G ENSP00000496894.1:n.*58-2A>G
ENST00000648668.1:n.520-2A>G
ENST00000649310.2:c.1082-2A>G ENSP00000496839.2:n.1082-2A>G
ENST00000649540.1:c.956-2A>G ENSP00000497469.1:n.956-2A>G
ENST00000649746.2:c.1082-2A>G ENSP00000497913.2:n.1082-2A>G
ENST00000649915.1:c.2595-2A>G
ENST00000649915.2:c.*2204-2A>G ENSP00000497681.2:n.*2204-2A>G
ENST00000696196.1:c.1082-2A>G ENSP00000512479.1:n.1082-2A>G
ENST00000696197.1:c.1082-2A>G ENSP00000512480.1:n.1082-2A>G
ENST00000696218.1:n.194-2A>G
ENST00000696220.1:c.329-23A>G ENSP00000512486.1:n.329-23A>G
ENST00000696221.1:c.329-2A>G ENSP00000512487.1:n.329-2A>G
ENST00000696222.1:c.329-2A>G ENSP00000512488.1:n.329-2A>G
ENST00000696223.1:c.329-2A>G ENSP00000512489.1:n.329-2A>G
ENST00000696224.1:c.476-2A>G ENSP00000512490.1:n.476-2A>G
ENST00000696225.1:c.1082-2A>G ENSP00000512491.1:n.1082-2A>G
XM_006724080.2:c.398-2A>G XP_006724143.1:n.398-2A>G
XM_006724080.3:c.398-2A>G XP_006724143.1:n.398-2A>G
XM_011546133.1:c.1082-2A>G XP_011544435.1:n.1082-2A>G
XM_011546133.2:c.1082-2A>G XP_011544435.1:n.1082-2A>G