Canonical Allele Identifier: CA293863615
Community Standard Title: NM_023036.6(DNAI2):c.1455C>G (p.Leu485=)
Gene: DNAI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74310124C>G , CM000679.2:g.74310124C>G GRCh38
NC_000017.10:g.72306263C>G , CM000679.1:g.72306263C>G GRCh37
NC_000017.9:g.69817858C>G NCBI36
NG_016865.1:g.40878C>G

Transcript Alleles

HGVS Amino-acid Change
NM_023036.6:c.1455C>G MANE Select NP_075462.3:p.Leu485=
ENST00000311014.11:c.1455C>G MANE Select ENSP00000308312.6:p.Leu485=
NM_001172810.1:c.1419C>G NP_001166281.1:p.Leu473=
NM_001172810.2:c.1419C>G NP_001166281.1:p.Leu473=
NM_001172810.3:c.1419C>G NP_001166281.1:p.Leu473=
NM_001353167.1:c.1455C>G NP_001340096.1:p.Leu485=
NM_001353167.2:c.1455C>G NP_001340096.1:p.Leu485=
NM_023036.4:c.1455C>G NP_075462.3:p.Leu485=
NM_023036.5:c.1455C>G NP_075462.3:p.Leu485=
NR_148379.1:n.1480C>G
NR_148379.2:n.1456C>G
ENST00000311014.10:c.1455C>G ENSP00000308312.6:p.Leu485=
ENST00000446837.2:c.1455C>G ENSP00000400252.2:p.Leu485=
ENST00000579055.5:c.*826C>G ENSP00000462767.1:n.*826C>G
ENST00000579490.5:c.1626C>G ENSP00000464197.1:p.Leu542=
ENST00000582036.5:c.1419C>G ENSP00000461950.1:p.Leu473=
XM_011525125.1:c.1455C>G XP_011523427.1:p.Leu485=
XM_011525125.2:c.1455C>G XP_011523427.1:p.Leu485=
XM_024450874.1:c.1455C>G XP_024306642.1:p.Leu485=
XM_024450875.1:c.1455C>G XP_024306643.1:p.Leu485=
XM_024450876.1:c.1455C>G XP_024306644.1:p.Leu485=
XM_024450877.1:c.1455C>G XP_024306645.1:p.Leu485=
XM_024450878.1:c.1455C>G XP_024306646.1:p.Leu485=
XM_024450879.1:c.1455C>G XP_024306647.1:p.Leu485=
XM_024450880.1:c.1419C>G XP_024306648.1:p.Leu473=
XM_024450881.1:c.1341C>G XP_024306649.1:p.Leu447=
XM_024450882.1:c.1419C>G XP_024306650.1:p.Leu473=
XM_024450883.1:c.1455C>G XP_024306651.1:p.Leu485=
XM_024450884.1:c.1455C>G XP_024306652.1:p.Leu485=
XM_024450885.1:c.1026C>G XP_024306653.1:p.Leu342=
XM_024450886.1:c.1026C>G XP_024306654.1:p.Leu342=
XR_429915.2:n.1541C>G
XR_429916.2:n.1577C>G
XR_934518.1:n.1579C>G
XR_934519.1:n.1576C>G
XR_934520.1:n.1652C>G
XR_934521.1:n.1564C>G
XR_934522.1:n.1552C>G
XR_934523.1:n.1561C>G
XR_934524.1:n.1579C>G
XR_934525.1:n.1543C>G
XR_934526.1:n.1465C>G
XR_934527.1:n.1577C>G
XR_934528.1:n.1577C>G
XR_934529.1:n.1458C>G
XR_934530.1:n.1531C>G
XR_934531.1:n.1457C>G