Canonical Allele Identifier: CA10088159
Community Standard Title: NM_001282225.2(ADA2):c.687C>T (p.Phe229=)
Gene: ADA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17203629G>A , CM000684.2:g.17203629G>A GRCh38
NC_000022.10:g.17684519G>A , CM000684.1:g.17684519G>A GRCh37
NC_000022.9:g.16064519G>A NCBI36
NG_033943.1:g.23226C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001282225.2:c.687C>T MANE Select NP_001269154.1:p.Phe229=
ENST00000399837.8:c.687C>T MANE Select ENSP00000382731.2:p.Phe229=
NM_001282225.1:c.687C>T NP_001269154.1:p.Phe229=
NM_001282226.1:c.687C>T NP_001269155.1:p.Phe229=
NM_001282226.2:c.687C>T NP_001269155.1:p.Phe229=
NM_001282227.1:c.561C>T NP_001269156.1:p.Phe187=
NM_001282227.2:c.561C>T NP_001269156.1:p.Phe187=
NM_001282228.1:c.561C>T NP_001269157.1:p.Phe187=
NM_001282228.2:c.561C>T NP_001269157.1:p.Phe187=
NM_001282229.1:c.327C>T NP_001269158.1:p.Phe109=
NM_001282229.2:c.327C>T NP_001269158.1:p.Phe109=
ENST00000262607.3:c.687C>T ENSP00000262607.2:p.Phe229=
ENST00000399837.6:c.687C>T ENSP00000382731.2:p.Phe229=
ENST00000399839.5:c.687C>T ENSP00000382733.1:p.Phe229=
ENST00000449907.6:c.561C>T ENSP00000406443.2:p.Phe187=
ENST00000449907.7:c.561C>T ENSP00000406443.2:p.Phe187=
ENST00000449907.8:c.561C>T ENSP00000406443.2:p.Phe187=
ENST00000543038.2:c.687C>T ENSP00000442482.2:p.Phe229=
ENST00000610390.4:c.327C>T ENSP00000483418.1:p.Phe109=
ENST00000610390.5:c.327C>T ENSP00000483418.1:p.Phe109=
ENST00000649310.2:c.687C>T ENSP00000496839.2:p.Phe229=
ENST00000649540.1:c.561C>T ENSP00000497469.1:p.Phe187=
ENST00000649746.2:c.687C>T ENSP00000497913.2:p.Phe229=
ENST00000649915.1:c.550C>T
ENST00000649915.2:c.*159C>T ENSP00000497681.2:n.*159C>T
ENST00000650635.1:n.687C>T
ENST00000696196.1:c.687C>T ENSP00000512479.1:p.Phe229=
ENST00000696197.1:c.687C>T ENSP00000512480.1:p.Phe229=
ENST00000696225.1:c.687C>T ENSP00000512491.1:p.Phe229=
ENST00000696226.1:c.687C>T ENSP00000512492.1:p.Phe229=
ENST00000696227.1:c.*239C>T ENSP00000512493.1:n.*239C>T
XM_006724080.2:c.-1648C>T XP_006724143.1:n.-1648C>T
XM_006724080.3:c.-1648C>T XP_006724143.1:n.-1648C>T
XM_011546133.1:c.687C>T XP_011544435.1:p.Phe229=
XM_011546133.2:c.687C>T XP_011544435.1:p.Phe229=