Canonical Allele Identifier: CA10088043
Community Standard Title: NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter)
Gene: ADA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17189980G>A , CM000684.2:g.17189980G>A GRCh38
NC_000022.10:g.17670870G>A , CM000684.1:g.17670870G>A GRCh37
NC_000022.9:g.16050870G>A NCBI36
NG_033943.1:g.36875C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001282225.2:c.934C>T MANE Select NP_001269154.1:p.Arg312Ter
ENST00000399837.8:c.934C>T MANE Select ENSP00000382731.2:p.Arg312Ter
NM_001282225.1:c.934C>T NP_001269154.1:p.Arg312Ter
NM_001282226.1:c.934C>T NP_001269155.1:p.Arg312Ter
NM_001282226.2:c.934C>T NP_001269155.1:p.Arg312Ter
NM_001282227.1:c.808C>T NP_001269156.1:p.Arg270Ter
NM_001282227.2:c.808C>T NP_001269156.1:p.Arg270Ter
NM_001282228.1:c.808C>T NP_001269157.1:p.Arg270Ter
NM_001282228.2:c.808C>T NP_001269157.1:p.Arg270Ter
NM_001282229.1:c.574C>T NP_001269158.1:p.Arg192Ter
NM_001282229.2:c.574C>T NP_001269158.1:p.Arg192Ter
NM_177405.2:c.211C>T NP_803124.1:p.Arg71Ter
NM_177405.3:c.211C>T NP_803124.1:p.Arg71Ter
ENST00000262607.3:c.934C>T ENSP00000262607.2:p.Arg312Ter
ENST00000330232.8:c.211C>T ENSP00000332871.4:p.Arg71Ter
ENST00000330232.9:c.211C>T ENSP00000332871.4:p.Arg71Ter
ENST00000399837.6:c.934C>T ENSP00000382731.2:p.Arg312Ter
ENST00000399839.5:c.934C>T ENSP00000382733.1:p.Arg312Ter
ENST00000449907.6:c.808C>T ENSP00000406443.2:p.Arg270Ter
ENST00000449907.7:c.808C>T ENSP00000406443.2:p.Arg270Ter
ENST00000449907.8:c.808C>T ENSP00000406443.2:p.Arg270Ter
ENST00000480276.1:n.374C>T
ENST00000543038.2:c.934C>T ENSP00000442482.2:p.Arg312Ter
ENST00000610390.4:c.574C>T ENSP00000483418.1:p.Arg192Ter
ENST00000610390.5:c.574C>T ENSP00000483418.1:p.Arg192Ter
ENST00000648061.1:c.159-1533C>T ENSP00000496894.1:n.159-1533C>T
ENST00000648061.2:c.159-1533C>T ENSP00000496894.1:n.159-1533C>T
ENST00000648668.1:n.372C>T
ENST00000649310.2:c.934C>T ENSP00000496839.2:p.Arg312Ter
ENST00000649540.1:c.808C>T ENSP00000497469.1:p.Arg270Ter
ENST00000649746.2:c.934C>T ENSP00000497913.2:p.Arg312Ter
ENST00000649915.1:c.2447C>T
ENST00000649915.2:c.*2056C>T ENSP00000497681.2:n.*2056C>T
ENST00000696189.1:n.235C>T
ENST00000696196.1:c.934C>T ENSP00000512479.1:p.Arg312Ter
ENST00000696197.1:c.934C>T ENSP00000512480.1:p.Arg312Ter
ENST00000696220.1:c.181C>T ENSP00000512486.1:p.Arg61Ter
ENST00000696221.1:c.181C>T ENSP00000512487.1:p.Arg61Ter
ENST00000696222.1:c.181C>T ENSP00000512488.1:p.Arg61Ter
ENST00000696223.1:c.181C>T ENSP00000512489.1:p.Arg61Ter
ENST00000696224.1:c.328C>T ENSP00000512490.1:p.Arg110Ter
ENST00000696225.1:c.934C>T ENSP00000512491.1:p.Arg312Ter
XM_006724080.2:c.250C>T XP_006724143.1:p.Arg84Ter
XM_006724080.3:c.250C>T XP_006724143.1:p.Arg84Ter
XM_011546133.1:c.934C>T XP_011544435.1:p.Arg312Ter
XM_011546133.2:c.934C>T XP_011544435.1:p.Arg312Ter