Canonical Allele Identifier: CA410233201

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17188357A>G , CM000684.2:g.17188357A>G	GRCh38
NC_000022.10:g.17669247A>G , CM000684.1:g.17669247A>G	GRCh37
NC_000022.9:g.16049247A>G	NCBI36
NG_033943.1:g.38498T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.1063T>C MANE Select	NP_001269154.1:p.Phe355Leu
ENST00000399837.8:c.1063T>C MANE Select	ENSP00000382731.2:p.Phe355Leu
NM_001282225.1:c.1063T>C	NP_001269154.1:p.Phe355Leu
NM_001282226.1:c.1063T>C	NP_001269155.1:p.Phe355Leu
NM_001282226.2:c.1063T>C	NP_001269155.1:p.Phe355Leu
NM_001282227.1:c.937T>C	NP_001269156.1:p.Phe313Leu
NM_001282227.2:c.937T>C	NP_001269156.1:p.Phe313Leu
NM_001282228.1:c.937T>C	NP_001269157.1:p.Phe313Leu
NM_001282228.2:c.937T>C	NP_001269157.1:p.Phe313Leu
NM_001282229.1:c.703T>C	NP_001269158.1:p.Phe235Leu
NM_001282229.2:c.703T>C	NP_001269158.1:p.Phe235Leu
NM_177405.2:c.340T>C	NP_803124.1:p.Phe114Leu
NM_177405.3:c.340T>C	NP_803124.1:p.Phe114Leu
ENST00000262607.3:c.1063T>C	ENSP00000262607.2:p.Phe355Leu
ENST00000330232.8:c.340T>C	ENSP00000332871.4:p.Phe114Leu
ENST00000330232.9:c.340T>C	ENSP00000332871.4:p.Phe114Leu
ENST00000399837.6:c.1063T>C	ENSP00000382731.2:p.Phe355Leu
ENST00000399839.5:c.1063T>C	ENSP00000382733.1:p.Phe355Leu
ENST00000449907.6:c.937T>C	ENSP00000406443.2:p.Phe313Leu
ENST00000449907.7:c.937T>C	ENSP00000406443.2:p.Phe313Leu
ENST00000449907.8:c.937T>C	ENSP00000406443.2:p.Phe313Leu
ENST00000469063.1:n.371T>C
ENST00000469063.2:n.951T>C
ENST00000543038.2:c.1063T>C	ENSP00000442482.2:p.Phe355Leu
ENST00000610390.4:c.703T>C	ENSP00000483418.1:p.Phe235Leu
ENST00000610390.5:c.703T>C	ENSP00000483418.1:p.Phe235Leu
ENST00000648061.1:c.*39T>C	ENSP00000496894.1:n.*39T>C
ENST00000648061.2:c.*39T>C	ENSP00000496894.1:n.*39T>C
ENST00000648668.1:n.501T>C
ENST00000649310.2:c.1063T>C	ENSP00000496839.2:p.Phe355Leu
ENST00000649540.1:c.937T>C	ENSP00000497469.1:p.Phe313Leu
ENST00000649746.2:c.1063T>C	ENSP00000497913.2:p.Phe355Leu
ENST00000649915.1:c.2576T>C
ENST00000649915.2:c.*2185T>C	ENSP00000497681.2:n.*2185T>C
ENST00000696189.1:n.364T>C
ENST00000696196.1:c.1063T>C	ENSP00000512479.1:p.Phe355Leu
ENST00000696197.1:c.1063T>C	ENSP00000512480.1:p.Phe355Leu
ENST00000696218.1:n.175T>C
ENST00000696220.1:c.310T>C	ENSP00000512486.1:p.Phe104Leu
ENST00000696221.1:c.310T>C	ENSP00000512487.1:p.Phe104Leu
ENST00000696222.1:c.310T>C	ENSP00000512488.1:p.Phe104Leu
ENST00000696223.1:c.310T>C	ENSP00000512489.1:p.Phe104Leu
ENST00000696224.1:c.457T>C	ENSP00000512490.1:p.Phe153Leu
ENST00000696225.1:c.1063T>C	ENSP00000512491.1:p.Phe355Leu
XM_006724080.2:c.379T>C	XP_006724143.1:p.Phe127Leu
XM_006724080.3:c.379T>C	XP_006724143.1:p.Phe127Leu
XM_011546133.1:c.1063T>C	XP_011544435.1:p.Phe355Leu
XM_011546133.2:c.1063T>C	XP_011544435.1:p.Phe355Leu