Canonical Allele Identifier: CA10087992

Gene: ADA2

Linked Data

• ClinVar Variation Id: 430693
• ClinVar RCV Id: RCV000495242 ; RCV000544116 ; RCV001081062
• dbSNP Id: rs74317375
• ExAC: 22:17669265 C / T
• gnomAD v2: 22-17669265-C-T
• gnomAD v3: 22-17188375-C-T
• gnomAD v4: 22-17188375-C-T
• MyVariant Identifiers: chr22:g.17669265C>T (hg19) ; chr22:g.17188375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17188375C>T , CM000684.2:g.17188375C>T	GRCh38
NC_000022.10:g.17669265C>T , CM000684.1:g.17669265C>T	GRCh37
NC_000022.9:g.16049265C>T	NCBI36
NG_033943.1:g.38480G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330232.9:c.322G>A	ENSP00000332871.4:p.Val108Ile
ENST00000449907.8:c.919G>A	ENSP00000406443.2:p.Val307Ile
ENST00000469063.2:n.933G>A
ENST00000543038.2:c.1045G>A	ENSP00000442482.2:p.Val349Ile
ENST00000610390.5:c.685G>A	ENSP00000483418.1:p.Val229Ile
ENST00000648061.2:c.*21G>A	ENSP00000496894.1:n.*21G>A
ENST00000649310.2:c.1045G>A	ENSP00000496839.2:p.Val349Ile
ENST00000649746.2:c.1045G>A	ENSP00000497913.2:p.Val349Ile
ENST00000649915.2:c.*2167G>A	ENSP00000497681.2:n.*2167G>A
ENST00000696189.1:n.346G>A
ENST00000696196.1:c.1045G>A	ENSP00000512479.1:p.Val349Ile
ENST00000696197.1:c.1045G>A	ENSP00000512480.1:p.Val349Ile
ENST00000696218.1:n.157G>A
ENST00000696220.1:c.292G>A	ENSP00000512486.1:p.Val98Ile
ENST00000696221.1:c.292G>A	ENSP00000512487.1:p.Val98Ile
ENST00000696222.1:c.292G>A	ENSP00000512488.1:p.Val98Ile
ENST00000696223.1:c.292G>A	ENSP00000512489.1:p.Val98Ile
ENST00000696224.1:c.439G>A	ENSP00000512490.1:p.Val147Ile
ENST00000696225.1:c.1045G>A	ENSP00000512491.1:p.Val349Ile
ENST00000399837.8:c.1045G>A MANE Select	ENSP00000382731.2:p.Val349Ile
ENST00000449907.7:c.919G>A	ENSP00000406443.2:p.Val307Ile
ENST00000648061.1:c.*21G>A	ENSP00000496894.1:n.*21G>A
ENST00000648668.1:n.483G>A
ENST00000649540.1:c.919G>A	ENSP00000497469.1:p.Val307Ile
ENST00000649915.1:c.2558G>A
ENST00000262607.3:c.1045G>A	ENSP00000262607.2:p.Val349Ile
ENST00000330232.8:c.322G>A	ENSP00000332871.4:p.Val108Ile
ENST00000399837.6:c.1045G>A	ENSP00000382731.2:p.Val349Ile
ENST00000399839.5:c.1045G>A	ENSP00000382733.1:p.Val349Ile
ENST00000449907.6:c.919G>A	ENSP00000406443.2:p.Val307Ile
ENST00000469063.1:n.353G>A
ENST00000610390.4:c.685G>A	ENSP00000483418.1:p.Val229Ile
NM_001282225.1:c.1045G>A	NP_001269154.1:p.Val349Ile
NM_001282226.1:c.1045G>A	NP_001269155.1:p.Val349Ile
NM_001282227.1:c.919G>A	NP_001269156.1:p.Val307Ile
NM_001282228.1:c.919G>A	NP_001269157.1:p.Val307Ile
NM_001282229.1:c.685G>A	NP_001269158.1:p.Val229Ile
NM_177405.2:c.322G>A	NP_803124.1:p.Val108Ile
XM_006724080.2:c.361G>A	XP_006724143.1:p.Val121Ile
XM_011546133.1:c.1045G>A	XP_011544435.1:p.Val349Ile
NM_001282225.2:c.1045G>A MANE Select	NP_001269154.1:p.Val349Ile
XM_006724080.3:c.361G>A	XP_006724143.1:p.Val121Ile
XM_011546133.2:c.1045G>A	XP_011544435.1:p.Val349Ile
NM_001282226.2:c.1045G>A	NP_001269155.1:p.Val349Ile
NM_001282227.2:c.919G>A	NP_001269156.1:p.Val307Ile
NM_001282228.2:c.919G>A	NP_001269157.1:p.Val307Ile
NM_177405.3:c.322G>A	NP_803124.1:p.Val108Ile
NM_001282229.2:c.685G>A	NP_001269158.1:p.Val229Ile