Canonical Allele Identifier: CA410232331

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17182695C>T , CM000684.2:g.17182695C>T	GRCh38
NC_000022.10:g.17663585C>T , CM000684.1:g.17663585C>T	GRCh37
NC_000022.9:g.16043585C>T	NCBI36
NG_033943.1:g.44160G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.1148G>A MANE Select	NP_001269154.1:p.Gly383Asp
ENST00000399837.8:c.1148G>A MANE Select	ENSP00000382731.2:p.Gly383Asp
NM_001282225.1:c.1148G>A	NP_001269154.1:p.Gly383Asp
NM_001282226.1:c.1148G>A	NP_001269155.1:p.Gly383Asp
NM_001282226.2:c.1148G>A	NP_001269155.1:p.Gly383Asp
NM_001282227.1:c.1022G>A	NP_001269156.1:p.Gly341Asp
NM_001282227.2:c.1022G>A	NP_001269156.1:p.Gly341Asp
NM_001282228.1:c.1022G>A	NP_001269157.1:p.Gly341Asp
NM_001282228.2:c.1022G>A	NP_001269157.1:p.Gly341Asp
NM_001282229.1:c.788G>A	NP_001269158.1:p.Gly263Asp
NM_001282229.2:c.788G>A	NP_001269158.1:p.Gly263Asp
NM_177405.2:c.425G>A	NP_803124.1:p.Gly142Asp
NM_177405.3:c.425G>A	NP_803124.1:p.Gly142Asp
ENST00000262607.3:c.1148G>A	ENSP00000262607.2:p.Gly383Asp
ENST00000330232.8:c.425G>A	ENSP00000332871.4:p.Gly142Asp
ENST00000330232.9:c.425G>A	ENSP00000332871.4:p.Gly142Asp
ENST00000399837.6:c.1148G>A	ENSP00000382731.2:p.Gly383Asp
ENST00000399839.5:c.1148G>A	ENSP00000382733.1:p.Gly383Asp
ENST00000449907.6:c.1022G>A	ENSP00000406443.2:p.Gly341Asp
ENST00000449907.7:c.1022G>A	ENSP00000406443.2:p.Gly341Asp
ENST00000449907.8:c.1022G>A	ENSP00000406443.2:p.Gly341Asp
ENST00000469063.1:n.456G>A
ENST00000469063.2:n.1036G>A
ENST00000543038.2:c.1148G>A	ENSP00000442482.2:p.Gly383Asp
ENST00000610390.4:c.788G>A	ENSP00000483418.1:p.Gly263Asp
ENST00000610390.5:c.788G>A	ENSP00000483418.1:p.Gly263Asp
ENST00000648061.1:c.*124G>A	ENSP00000496894.1:n.*124G>A
ENST00000648061.2:c.*124G>A	ENSP00000496894.1:n.*124G>A
ENST00000648668.1:n.586G>A
ENST00000649310.2:c.1148G>A	ENSP00000496839.2:p.Gly383Asp
ENST00000649540.1:c.1022G>A	ENSP00000497469.1:p.Gly341Asp
ENST00000649746.2:c.1148G>A	ENSP00000497913.2:p.Gly383Asp
ENST00000649915.1:c.2661G>A
ENST00000649915.2:c.*2270G>A	ENSP00000497681.2:n.*2270G>A
ENST00000696196.1:c.1148G>A	ENSP00000512479.1:p.Gly383Asp
ENST00000696197.1:c.1148G>A	ENSP00000512480.1:p.Gly383Asp
ENST00000696218.1:n.260G>A
ENST00000696220.1:c.374G>A	ENSP00000512486.1:p.Gly125Asp
ENST00000696221.1:c.395G>A	ENSP00000512487.1:p.Gly132Asp
ENST00000696222.1:c.395G>A	ENSP00000512488.1:p.Gly132Asp
ENST00000696223.1:c.395G>A	ENSP00000512489.1:p.Gly132Asp
ENST00000696224.1:c.542G>A	ENSP00000512490.1:p.Gly181Asp
ENST00000696225.1:c.1148G>A	ENSP00000512491.1:p.Gly383Asp
XM_006724080.2:c.464G>A	XP_006724143.1:p.Gly155Asp
XM_006724080.3:c.464G>A	XP_006724143.1:p.Gly155Asp
XM_011546133.1:c.1148G>A	XP_011544435.1:p.Gly383Asp
XM_011546133.2:c.1148G>A	XP_011544435.1:p.Gly383Asp