Canonical Allele Identifier: CA321176330

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17189952C>T , CM000684.2:g.17189952C>T	GRCh38
NC_000022.10:g.17670842C>T , CM000684.1:g.17670842C>T	GRCh37
NC_000022.9:g.16050842C>T	NCBI36
NG_033943.1:g.36903G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.962G>A MANE Select	NP_001269154.1:p.Gly321Glu
ENST00000399837.8:c.962G>A MANE Select	ENSP00000382731.2:p.Gly321Glu
NM_001282225.1:c.962G>A	NP_001269154.1:p.Gly321Glu
NM_001282226.1:c.962G>A	NP_001269155.1:p.Gly321Glu
NM_001282226.2:c.962G>A	NP_001269155.1:p.Gly321Glu
NM_001282227.1:c.836G>A	NP_001269156.1:p.Gly279Glu
NM_001282227.2:c.836G>A	NP_001269156.1:p.Gly279Glu
NM_001282228.1:c.836G>A	NP_001269157.1:p.Gly279Glu
NM_001282228.2:c.836G>A	NP_001269157.1:p.Gly279Glu
NM_001282229.1:c.602G>A	NP_001269158.1:p.Gly201Glu
NM_001282229.2:c.602G>A	NP_001269158.1:p.Gly201Glu
NM_177405.2:c.239G>A	NP_803124.1:p.Gly80Glu
NM_177405.3:c.239G>A	NP_803124.1:p.Gly80Glu
ENST00000262607.3:c.962G>A	ENSP00000262607.2:p.Gly321Glu
ENST00000330232.8:c.239G>A	ENSP00000332871.4:p.Gly80Glu
ENST00000330232.9:c.239G>A	ENSP00000332871.4:p.Gly80Glu
ENST00000399837.6:c.962G>A	ENSP00000382731.2:p.Gly321Glu
ENST00000399839.5:c.962G>A	ENSP00000382733.1:p.Gly321Glu
ENST00000449907.6:c.836G>A	ENSP00000406443.2:p.Gly279Glu
ENST00000449907.7:c.836G>A	ENSP00000406443.2:p.Gly279Glu
ENST00000449907.8:c.836G>A	ENSP00000406443.2:p.Gly279Glu
ENST00000480276.1:n.402G>A
ENST00000543038.2:c.962G>A	ENSP00000442482.2:p.Gly321Glu
ENST00000610390.4:c.602G>A	ENSP00000483418.1:p.Gly201Glu
ENST00000610390.5:c.602G>A	ENSP00000483418.1:p.Gly201Glu
ENST00000648061.1:c.159-1505G>A	ENSP00000496894.1:n.159-1505G>A
ENST00000648061.2:c.159-1505G>A	ENSP00000496894.1:n.159-1505G>A
ENST00000648668.1:n.400G>A
ENST00000649310.2:c.962G>A	ENSP00000496839.2:p.Gly321Glu
ENST00000649540.1:c.836G>A	ENSP00000497469.1:p.Gly279Glu
ENST00000649746.2:c.962G>A	ENSP00000497913.2:p.Gly321Glu
ENST00000649915.1:c.2475G>A
ENST00000649915.2:c.*2084G>A	ENSP00000497681.2:n.*2084G>A
ENST00000696189.1:n.263G>A
ENST00000696196.1:c.962G>A	ENSP00000512479.1:p.Gly321Glu
ENST00000696197.1:c.962G>A	ENSP00000512480.1:p.Gly321Glu
ENST00000696220.1:c.209G>A	ENSP00000512486.1:p.Gly70Glu
ENST00000696221.1:c.209G>A	ENSP00000512487.1:p.Gly70Glu
ENST00000696222.1:c.209G>A	ENSP00000512488.1:p.Gly70Glu
ENST00000696223.1:c.209G>A	ENSP00000512489.1:p.Gly70Glu
ENST00000696224.1:c.356G>A	ENSP00000512490.1:p.Gly119Glu
ENST00000696225.1:c.962G>A	ENSP00000512491.1:p.Gly321Glu
XM_006724080.2:c.278G>A	XP_006724143.1:p.Gly93Glu
XM_006724080.3:c.278G>A	XP_006724143.1:p.Gly93Glu
XM_011546133.1:c.962G>A	XP_011544435.1:p.Gly321Glu
XM_011546133.2:c.962G>A	XP_011544435.1:p.Gly321Glu