Canonical Allele Identifier: CA499226549
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283396C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956378C>G , CM000679.2:g.30956378C>G GRCh38
NC_000017.10:g.29283396C>G , CM000679.1:g.29283396C>G GRCh37
NC_000017.9:g.26307522C>G NCBI36
NG_051975.1:g.39643C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1020C>G MANE Select ENSP00000329468.3:p.Val340=
ENST00000330889.7:c.1020C>G ENSP00000329468.3:p.Val340=
ENST00000470962.1:n.440C>G
ENST00000480980.1:n.454C>G
ENST00000580525.5:c.1038C>G ENSP00000464121.1:p.Val346=
ENST00000581285.5:c.936C>G ENSP00000464155.1:p.Val312=
ENST00000584828.5:c.389C>G
ENST00000585130.5:c.*619C>G ENSP00000464120.1:n.*619C>G
NM_018404.2:c.1020C>G NP_060874.1:p.Val340=
XM_005258008.2:c.1038C>G XP_005258065.1:p.Val346=
XM_005258011.2:c.975C>G XP_005258068.1:p.Val325=
XM_006721973.2:c.1038C>G XP_006722036.1:p.Val346=
XM_011524993.1:c.1035C>G XP_011523295.1:p.Val345=
XM_011524994.1:c.1017C>G XP_011523296.1:p.Val339=
NM_001346712.1:c.1038C>G NP_001333641.1:p.Val346=
NM_001346714.1:c.1017C>G NP_001333643.1:p.Val339=
NM_001346716.1:c.1020C>G NP_001333645.1:p.Val340=
NR_144488.1:n.1219C>G
XM_024450831.1:c.1020C>G XP_024306599.1:p.Val340=
XM_024450832.1:c.1035C>G XP_024306600.1:p.Val345=
XM_024450833.1:c.975C>G XP_024306601.1:p.Val325=
XM_024450834.1:c.1038C>G XP_024306602.1:p.Val346=
XM_024450835.1:c.654C>G XP_024306603.1:p.Val218=
NM_018404.3:c.1020C>G MANE Select NP_060874.1:p.Val340=
NM_001346712.2:c.1038C>G NP_001333641.1:p.Val346=
NM_001346714.2:c.1017C>G NP_001333643.1:p.Val339=
NM_001346716.2:c.1020C>G NP_001333645.1:p.Val340=
NR_144488.2:n.1010C>G