Canonical Allele Identifier: CA499226096
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283282T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956264T>G , CM000679.2:g.30956264T>G GRCh38
NC_000017.10:g.29283282T>G , CM000679.1:g.29283282T>G GRCh37
NC_000017.9:g.26307408T>G NCBI36
NG_051975.1:g.39529T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.906T>G MANE Select ENSP00000329468.3:p.Val302=
ENST00000330889.7:c.906T>G ENSP00000329468.3:p.Val302=
ENST00000470962.1:n.326T>G
ENST00000480980.1:n.340T>G
ENST00000580525.5:c.924T>G ENSP00000464121.1:p.Val308=
ENST00000581285.5:c.822T>G ENSP00000464155.1:p.Val274=
ENST00000584828.5:c.275T>G
ENST00000584989.1:c.198T>G ENSP00000462634.1:p.Val66=
ENST00000585130.5:c.*505T>G ENSP00000464120.1:n.*505T>G
NM_018404.2:c.906T>G NP_060874.1:p.Val302=
XM_005258008.2:c.924T>G XP_005258065.1:p.Val308=
XM_005258011.2:c.861T>G XP_005258068.1:p.Val287=
XM_006721973.2:c.924T>G XP_006722036.1:p.Val308=
XM_011524993.1:c.921T>G XP_011523295.1:p.Val307=
XM_011524994.1:c.903T>G XP_011523296.1:p.Val301=
NM_001346712.1:c.924T>G NP_001333641.1:p.Val308=
NM_001346714.1:c.903T>G NP_001333643.1:p.Val301=
NM_001346716.1:c.906T>G NP_001333645.1:p.Val302=
NR_144488.1:n.1105T>G
XM_024450831.1:c.906T>G XP_024306599.1:p.Val302=
XM_024450832.1:c.921T>G XP_024306600.1:p.Val307=
XM_024450833.1:c.861T>G XP_024306601.1:p.Val287=
XM_024450834.1:c.924T>G XP_024306602.1:p.Val308=
XM_024450835.1:c.540T>G XP_024306603.1:p.Val180=
NM_018404.3:c.906T>G MANE Select NP_060874.1:p.Val302=
NM_001346712.2:c.924T>G NP_001333641.1:p.Val308=
NM_001346714.2:c.903T>G NP_001333643.1:p.Val301=
NM_001346716.2:c.906T>G NP_001333645.1:p.Val302=
NR_144488.2:n.896T>G