Canonical Allele Identifier: CA400908729
Community Standard Title: NM_023036.6(DNAI2):c.823A>T (p.Lys275Ter)
Gene: DNAI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74299816A>T , CM000679.2:g.74299816A>T GRCh38
NC_000017.10:g.72295955A>T , CM000679.1:g.72295955A>T GRCh37
NC_000017.9:g.69807550A>T NCBI36
NG_016865.1:g.30570A>T

Transcript Alleles

HGVS Amino-acid Change
NM_023036.6:c.823A>T MANE Select NP_075462.3:p.Lys275Ter
ENST00000311014.11:c.823A>T MANE Select ENSP00000308312.6:p.Lys275Ter
NM_001172810.1:c.823A>T NP_001166281.1:p.Lys275Ter
NM_001172810.2:c.823A>T NP_001166281.1:p.Lys275Ter
NM_001172810.3:c.823A>T NP_001166281.1:p.Lys275Ter
NM_001353167.1:c.823A>T NP_001340096.1:p.Lys275Ter
NM_001353167.2:c.823A>T NP_001340096.1:p.Lys275Ter
NM_023036.4:c.823A>T NP_075462.3:p.Lys275Ter
NM_023036.5:c.823A>T NP_075462.3:p.Lys275Ter
NR_148379.1:n.848A>T
NR_148379.2:n.824A>T
ENST00000311014.10:c.823A>T ENSP00000308312.6:p.Lys275Ter
ENST00000446837.2:c.823A>T ENSP00000400252.2:p.Lys275Ter
ENST00000579055.5:c.*194A>T ENSP00000462767.1:n.*194A>T
ENST00000579490.5:c.994A>T ENSP00000464197.1:p.Lys332Ter
ENST00000582036.5:c.823A>T ENSP00000461950.1:p.Lys275Ter
XM_011525125.1:c.823A>T XP_011523427.1:p.Lys275Ter
XM_011525125.2:c.823A>T XP_011523427.1:p.Lys275Ter
XM_024450874.1:c.823A>T XP_024306642.1:p.Lys275Ter
XM_024450875.1:c.823A>T XP_024306643.1:p.Lys275Ter
XM_024450876.1:c.823A>T XP_024306644.1:p.Lys275Ter
XM_024450877.1:c.823A>T XP_024306645.1:p.Lys275Ter
XM_024450878.1:c.823A>T XP_024306646.1:p.Lys275Ter
XM_024450879.1:c.823A>T XP_024306647.1:p.Lys275Ter
XM_024450880.1:c.823A>T XP_024306648.1:p.Lys275Ter
XM_024450881.1:c.709A>T XP_024306649.1:p.Lys237Ter
XM_024450882.1:c.823A>T XP_024306650.1:p.Lys275Ter
XM_024450883.1:c.823A>T XP_024306651.1:p.Lys275Ter
XM_024450884.1:c.823A>T XP_024306652.1:p.Lys275Ter
XM_024450885.1:c.394A>T XP_024306653.1:p.Lys132Ter
XM_024450886.1:c.394A>T XP_024306654.1:p.Lys132Ter
XR_429915.2:n.945A>T
XR_429916.2:n.945A>T
XR_934518.1:n.947A>T
XR_934519.1:n.944A>T
XR_934520.1:n.1020A>T
XR_934521.1:n.932A>T
XR_934522.1:n.920A>T
XR_934523.1:n.929A>T
XR_934524.1:n.947A>T
XR_934525.1:n.947A>T
XR_934526.1:n.833A>T
XR_934527.1:n.945A>T
XR_934528.1:n.945A>T
XR_934529.1:n.826A>T
XR_934530.1:n.899A>T
XR_934531.1:n.825A>T