Canonical Allele Identifier: CA913203360

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.[17181895T>C;17182647C>T] , CM000684.2:g.[17181895T>C;17182647C>T]	GRCh38
NC_000022.10:g.[17662785T>C;17663537C>T] , CM000684.1:g.[17662785T>C;17663537C>T]	GRCh37
NC_000022.9:g.[16042785T>C;16043537C>T]	NCBI36
NG_033943.1:g.[44208G>A;44960A>G]

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.[1196G>A;1367A>G] MANE Select	NP_001269154.1:p.Trp399Ter
ENST00000399837.8:c.[1196G>A;1367A>G] MANE Select	ENSP00000382731.2:p.Trp399Ter
NM_001282225.1:c.[1196G>A;1367A>G]	NP_001269154.1:p.Trp399Ter
NM_001282226.1:c.[1196G>A;1367A>G]	NP_001269155.1:p.Trp399Ter
NM_001282226.2:c.[1196G>A;1367A>G]	NP_001269155.1:p.Trp399Ter
NM_001282227.1:c.[1070G>A;1241A>G]	NP_001269156.1:p.Trp357Ter
NM_001282227.2:c.[1070G>A;1241A>G]	NP_001269156.1:p.Trp357Ter
NM_001282228.1:c.[1070G>A;1241A>G]	NP_001269157.1:p.Trp357Ter
NM_001282228.2:c.[1070G>A;1241A>G]	NP_001269157.1:p.Trp357Ter
NM_001282229.1:c.[836G>A;1007A>G]	NP_001269158.1:p.Trp279Ter
NM_001282229.2:c.[836G>A;1007A>G]	NP_001269158.1:p.Trp279Ter
NM_177405.2:c.[473G>A;644A>G]	NP_803124.1:p.Trp158Ter
NM_177405.3:c.[473G>A;644A>G]	NP_803124.1:p.Trp158Ter
ENST00000262607.3:c.[1196G>A;1367A>G]	ENSP00000262607.2:p.Trp399Ter
ENST00000330232.8:c.[473G>A;644A>G]	ENSP00000332871.4:p.Trp158Ter
ENST00000330232.9:c.[473G>A;644A>G]	ENSP00000332871.4:p.Trp158Ter
ENST00000399837.6:c.[1196G>A;1367A>G]	ENSP00000382731.2:p.Trp399Ter
ENST00000399839.5:c.[1196G>A;1367A>G]	ENSP00000382733.1:p.Trp399Ter
ENST00000449907.6:c.[1070G>A;1241A>G]	ENSP00000406443.2:p.Trp357Ter
ENST00000449907.7:c.[1070G>A;1241A>G]	ENSP00000406443.2:p.Trp357Ter
ENST00000449907.8:c.[1070G>A;1241A>G]	ENSP00000406443.2:p.Trp357Ter
ENST00000469063.2:n.[1084G>A;1255A>G]
ENST00000543038.2:c.[1196G>A;1367A>G]	ENSP00000442482.2:p.Trp399Ter
ENST00000610390.4:c.[836G>A;1007A>G]	ENSP00000483418.1:p.Trp279Ter
ENST00000610390.5:c.[836G>A;1007A>G]	ENSP00000483418.1:p.Trp279Ter
ENST00000648061.1:c.[*172G>A;*343A>G]	ENSP00000496894.1:n.[*172G>A;*343A>G]
ENST00000648061.2:c.[*172G>A;*343A>G]	ENSP00000496894.1:n.[*172G>A;*343A>G]
ENST00000648668.1:n.[634G>A;805A>G]
ENST00000649310.2:c.[1196G>A;1367A>G]	ENSP00000496839.2:p.Trp399Ter
ENST00000649540.1:c.[1070G>A;1241A>G]	ENSP00000497469.1:p.Trp357Ter
ENST00000649746.2:c.[1196G>A;1367A>G]	ENSP00000497913.2:p.Trp399Ter
ENST00000649915.1:c.[2709G>A;2880A>G]
ENST00000649915.2:c.[*2318G>A;*2489A>G]	ENSP00000497681.2:n.[*2318G>A;*2489A>G]
ENST00000696196.1:c.[1196G>A;1367A>G]	ENSP00000512479.1:p.Trp399Ter
ENST00000696197.1:c.[1196G>A;1367A>G]	ENSP00000512480.1:p.Trp399Ter
ENST00000696218.1:n.[308G>A;479A>G]
ENST00000696220.1:c.[422G>A;593A>G]	ENSP00000512486.1:p.Trp141Ter
ENST00000696221.1:c.[443G>A;614A>G]	ENSP00000512487.1:p.Trp148Ter
ENST00000696222.1:c.[443G>A;614A>G]	ENSP00000512488.1:p.Trp148Ter
ENST00000696223.1:c.[443G>A;614A>G]	ENSP00000512489.1:p.Trp148Ter
ENST00000696224.1:c.[590G>A;761A>G]	ENSP00000512490.1:p.Trp197Ter
ENST00000696225.1:c.[1196G>A;1367A>G]	ENSP00000512491.1:p.Trp399Ter
XM_006724080.2:c.[512G>A;683A>G]	XP_006724143.1:p.Trp171Ter
XM_006724080.3:c.[512G>A;683A>G]	XP_006724143.1:p.Trp171Ter
XM_011546133.1:c.[1196G>A;1367A>G]	XP_011544435.1:p.Trp399Ter
XM_011546133.2:c.[1196G>A;1367A>G]	XP_011544435.1:p.Trp399Ter