Canonical Allele Identifier: CA410233159

Gene: ADA2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17188338C>A , CM000684.2:g.17188338C>A	GRCh38
NC_000022.10:g.17669228C>A , CM000684.1:g.17669228C>A	GRCh37
NC_000022.9:g.16049228C>A	NCBI36
NG_033943.1:g.38517G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001282225.2:c.1081+1G>T MANE Select	NP_001269154.1:n.1081+1G>T
ENST00000399837.8:c.1081+1G>T MANE Select	ENSP00000382731.2:n.1081+1G>T
NM_001282225.1:c.1081+1G>T	NP_001269154.1:n.1081+1G>T
NM_001282226.1:c.1081+1G>T	NP_001269155.1:n.1081+1G>T
NM_001282226.2:c.1081+1G>T	NP_001269155.1:n.1081+1G>T
NM_001282227.1:c.955+1G>T	NP_001269156.1:n.955+1G>T
NM_001282227.2:c.955+1G>T	NP_001269156.1:n.955+1G>T
NM_001282228.1:c.955+1G>T	NP_001269157.1:n.955+1G>T
NM_001282228.2:c.955+1G>T	NP_001269157.1:n.955+1G>T
NM_001282229.1:c.721+1G>T	NP_001269158.1:n.721+1G>T
NM_001282229.2:c.721+1G>T	NP_001269158.1:n.721+1G>T
NM_177405.2:c.358+1G>T	NP_803124.1:n.358+1G>T
NM_177405.3:c.358+1G>T	NP_803124.1:n.358+1G>T
ENST00000262607.3:c.1081+1G>T	ENSP00000262607.2:n.1081+1G>T
ENST00000330232.8:c.358+1G>T	ENSP00000332871.4:n.358+1G>T
ENST00000330232.9:c.358+1G>T	ENSP00000332871.4:n.358+1G>T
ENST00000399837.6:c.1081+1G>T	ENSP00000382731.2:n.1081+1G>T
ENST00000399839.5:c.1081+1G>T	ENSP00000382733.1:n.1081+1G>T
ENST00000449907.6:c.955+1G>T	ENSP00000406443.2:n.955+1G>T
ENST00000449907.7:c.955+1G>T	ENSP00000406443.2:n.955+1G>T
ENST00000449907.8:c.955+1G>T	ENSP00000406443.2:n.955+1G>T
ENST00000469063.1:n.389+1G>T
ENST00000469063.2:n.969+1G>T
ENST00000543038.2:c.1081+1G>T	ENSP00000442482.2:n.1081+1G>T
ENST00000610390.4:c.721+1G>T	ENSP00000483418.1:n.721+1G>T
ENST00000610390.5:c.721+1G>T	ENSP00000483418.1:n.721+1G>T
ENST00000648061.1:c.*57+1G>T	ENSP00000496894.1:n.*57+1G>T
ENST00000648061.2:c.*57+1G>T	ENSP00000496894.1:n.*57+1G>T
ENST00000648668.1:n.519+1G>T
ENST00000649310.2:c.1081+1G>T	ENSP00000496839.2:n.1081+1G>T
ENST00000649540.1:c.955+1G>T	ENSP00000497469.1:n.955+1G>T
ENST00000649746.2:c.1081+1G>T	ENSP00000497913.2:n.1081+1G>T
ENST00000649915.1:c.2594+1G>T
ENST00000649915.2:c.*2203+1G>T	ENSP00000497681.2:n.*2203+1G>T
ENST00000696189.1:n.383G>T
ENST00000696196.1:c.1081+1G>T	ENSP00000512479.1:n.1081+1G>T
ENST00000696197.1:c.1081+1G>T	ENSP00000512480.1:n.1081+1G>T
ENST00000696218.1:n.193+1G>T
ENST00000696220.1:c.328+1G>T	ENSP00000512486.1:n.328+1G>T
ENST00000696221.1:c.328+1G>T	ENSP00000512487.1:n.328+1G>T
ENST00000696222.1:c.328+1G>T	ENSP00000512488.1:n.328+1G>T
ENST00000696223.1:c.328+1G>T	ENSP00000512489.1:n.328+1G>T
ENST00000696224.1:c.475+1G>T	ENSP00000512490.1:n.475+1G>T
ENST00000696225.1:c.1081+1G>T	ENSP00000512491.1:n.1081+1G>T
XM_006724080.2:c.397+1G>T	XP_006724143.1:n.397+1G>T
XM_006724080.3:c.397+1G>T	XP_006724143.1:n.397+1G>T
XM_011546133.1:c.1081+1G>T	XP_011544435.1:n.1081+1G>T
XM_011546133.2:c.1081+1G>T	XP_011544435.1:n.1081+1G>T