Canonical Allele Identifier: CA513180099

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17207243G>A , CM000684.2:g.17207243G>A	GRCh38
NC_000022.10:g.17688133G>A , CM000684.1:g.17688133G>A	GRCh37
NC_000022.9:g.16068133G>A	NCBI36
NG_033943.1:g.19612C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.370C>T MANE Select	NP_001269154.1:p.Leu124=
ENST00000399837.8:c.370C>T MANE Select	ENSP00000382731.2:p.Leu124=
NM_001282225.1:c.370C>T	NP_001269154.1:p.Leu124=
NM_001282226.1:c.370C>T	NP_001269155.1:p.Leu124=
NM_001282226.2:c.370C>T	NP_001269155.1:p.Leu124=
NM_001282227.1:c.244C>T	NP_001269156.1:p.Leu82=
NM_001282227.2:c.244C>T	NP_001269156.1:p.Leu82=
NM_001282228.1:c.244C>T	NP_001269157.1:p.Leu82=
NM_001282228.2:c.244C>T	NP_001269157.1:p.Leu82=
NM_001282229.1:c.10C>T	NP_001269158.1:p.Leu4=
NM_001282229.2:c.10C>T	NP_001269158.1:p.Leu4=
ENST00000262607.3:c.370C>T	ENSP00000262607.2:p.Leu124=
ENST00000399837.6:c.370C>T	ENSP00000382731.2:p.Leu124=
ENST00000399839.5:c.370C>T	ENSP00000382733.1:p.Leu124=
ENST00000441548.1:c.370C>T	ENSP00000392078.1:p.Leu124=
ENST00000449907.6:c.244C>T	ENSP00000406443.2:p.Leu82=
ENST00000449907.7:c.244C>T	ENSP00000406443.2:p.Leu82=
ENST00000449907.8:c.244C>T	ENSP00000406443.2:p.Leu82=
ENST00000543038.1:c.370C>T	ENSP00000442482.1:p.Leu124=
ENST00000543038.2:c.370C>T	ENSP00000442482.2:p.Leu124=
ENST00000610390.4:c.10C>T	ENSP00000483418.1:p.Leu4=
ENST00000610390.5:c.10C>T	ENSP00000483418.1:p.Leu4=
ENST00000649310.2:c.370C>T	ENSP00000496839.2:p.Leu124=
ENST00000649540.1:c.244C>T	ENSP00000497469.1:p.Leu82=
ENST00000649746.2:c.370C>T	ENSP00000497913.2:p.Leu124=
ENST00000649915.1:c.197C>T
ENST00000649915.2:c.370C>T	ENSP00000497681.2:p.Leu124=
ENST00000650635.1:n.370C>T
ENST00000696196.1:c.370C>T	ENSP00000512479.1:p.Leu124=
ENST00000696197.1:c.370C>T	ENSP00000512480.1:p.Leu124=
ENST00000696225.1:c.370C>T	ENSP00000512491.1:p.Leu124=
ENST00000696226.1:c.370C>T	ENSP00000512492.1:p.Leu124=
ENST00000696227.1:c.370C>T	ENSP00000512493.1:p.Leu124=
XM_006724080.2:c.-2001C>T	XP_006724143.1:n.-2001C>T
XM_006724080.3:c.-2001C>T	XP_006724143.1:n.-2001C>T
XM_011546133.1:c.370C>T	XP_011544435.1:p.Leu124=
XM_011546133.2:c.370C>T	XP_011544435.1:p.Leu124=