Canonical Allele Identifier: CA1698969
Gene: ADD2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.70673271G>A
GRCh37 chr2:g.70900403G>A
gnomAD v2:
2:70900403 G / A
gnomAD v3:
2:70673271 G / A
gnomAD v4:
chr2-70673271-G-A
Joint Max Group AF 0.22532743 (AFR)
Genomes Max Group AF 0.22244249 (AFR)
Exomes Max Group AF 0.2262639 (AFR)
dbSNP:
4984
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70673271G>A , CM000664.2:g.70673271G>A GRCh38
NC_000002.11:g.70900403G>A , CM000664.1:g.70900403G>A GRCh37
NC_000002.10:g.70753911G>A NCBI36
NG_029481.1:g.99973C>T
NG_029481.2:g.99973C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264436.9:c.1742-265C>T MANE Select ENSP00000264436.3:n.1742-265C>T
ENST00000264436.8:c.1742-265C>T ENSP00000264436.3:n.1742-265C>T
ENST00000355733.7:c.1797C>T ENSP00000347972.3:p.Ser599=
ENST00000403045.6:c.1742-265C>T ENSP00000384303.2:n.1742-265C>T
ENST00000407644.6:c.1742-265C>T ENSP00000384677.2:n.1742-265C>T
ENST00000481675.1:n.78C>T
NM_001185054.1:c.1742-265C>T NP_001171983.1:n.1742-265C>T
NM_001617.3:c.1742-265C>T NP_001608.1:n.1742-265C>T
NM_017488.3:c.1797C>T NP_059522.1:p.Ser599=
XM_011532502.1:c.1742-265C>T XP_011530804.1:n.1742-265C>T
XM_011532503.1:c.1742-265C>T XP_011530805.1:n.1742-265C>T
XM_011532502.2:c.1742-265C>T XP_011530804.1:n.1742-265C>T
XR_940230.2:n.30G>A
NM_001617.4:c.1742-265C>T MANE Select NP_001608.1:n.1742-265C>T
NM_017488.4:c.1797C>T NP_059522.1:p.Ser599=
NM_001185054.2:c.1742-265C>T NP_001171983.1:n.1742-265C>T
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