Canonical Allele Identifier: CA410228956

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17203768A>G , CM000684.2:g.17203768A>G	GRCh38
NC_000022.10:g.17684658A>G , CM000684.1:g.17684658A>G	GRCh37
NC_000022.9:g.16064658A>G	NCBI36
NG_033943.1:g.23087T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.548T>C MANE Select	NP_001269154.1:p.Leu183Pro
ENST00000399837.8:c.548T>C MANE Select	ENSP00000382731.2:p.Leu183Pro
NM_001282225.1:c.548T>C	NP_001269154.1:p.Leu183Pro
NM_001282226.1:c.548T>C	NP_001269155.1:p.Leu183Pro
NM_001282226.2:c.548T>C	NP_001269155.1:p.Leu183Pro
NM_001282227.1:c.422T>C	NP_001269156.1:p.Leu141Pro
NM_001282227.2:c.422T>C	NP_001269156.1:p.Leu141Pro
NM_001282228.1:c.422T>C	NP_001269157.1:p.Leu141Pro
NM_001282228.2:c.422T>C	NP_001269157.1:p.Leu141Pro
NM_001282229.1:c.188T>C	NP_001269158.1:p.Leu63Pro
NM_001282229.2:c.188T>C	NP_001269158.1:p.Leu63Pro
ENST00000262607.3:c.548T>C	ENSP00000262607.2:p.Leu183Pro
ENST00000399837.6:c.548T>C	ENSP00000382731.2:p.Leu183Pro
ENST00000399839.5:c.548T>C	ENSP00000382733.1:p.Leu183Pro
ENST00000449907.6:c.422T>C	ENSP00000406443.2:p.Leu141Pro
ENST00000449907.7:c.422T>C	ENSP00000406443.2:p.Leu141Pro
ENST00000449907.8:c.422T>C	ENSP00000406443.2:p.Leu141Pro
ENST00000543038.2:c.548T>C	ENSP00000442482.2:p.Leu183Pro
ENST00000610390.4:c.188T>C	ENSP00000483418.1:p.Leu63Pro
ENST00000610390.5:c.188T>C	ENSP00000483418.1:p.Leu63Pro
ENST00000649310.2:c.548T>C	ENSP00000496839.2:p.Leu183Pro
ENST00000649540.1:c.422T>C	ENSP00000497469.1:p.Leu141Pro
ENST00000649746.2:c.548T>C	ENSP00000497913.2:p.Leu183Pro
ENST00000649915.1:c.411T>C
ENST00000649915.2:c.*20T>C	ENSP00000497681.2:n.*20T>C
ENST00000650635.1:n.548T>C
ENST00000696196.1:c.548T>C	ENSP00000512479.1:p.Leu183Pro
ENST00000696197.1:c.548T>C	ENSP00000512480.1:p.Leu183Pro
ENST00000696225.1:c.548T>C	ENSP00000512491.1:p.Leu183Pro
ENST00000696226.1:c.548T>C	ENSP00000512492.1:p.Leu183Pro
ENST00000696227.1:c.*100T>C	ENSP00000512493.1:n.*100T>C
XM_006724080.2:c.-1787T>C	XP_006724143.1:n.-1787T>C
XM_006724080.3:c.-1787T>C	XP_006724143.1:n.-1787T>C
XM_011546133.1:c.548T>C	XP_011544435.1:p.Leu183Pro
XM_011546133.2:c.548T>C	XP_011544435.1:p.Leu183Pro