Canonical Allele Identifier: CA400914743
Community Standard Title: NM_023036.6(DNAI2):c.1795G>T (p.Glu599Ter)
Gene: DNAI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74314193G>T , CM000679.2:g.74314193G>T GRCh38
NC_000017.10:g.72310332G>T , CM000679.1:g.72310332G>T GRCh37
NC_000017.9:g.69821927G>T NCBI36
NG_016865.1:g.44947G>T

Transcript Alleles

HGVS Amino-acid Change
NM_023036.6:c.1795G>T MANE Select NP_075462.3:p.Glu599Ter
ENST00000311014.11:c.1795G>T MANE Select ENSP00000308312.6:p.Glu599Ter
NM_001172810.1:c.1759G>T NP_001166281.1:p.Glu587Ter
NM_001172810.2:c.1759G>T NP_001166281.1:p.Glu587Ter
NM_001172810.3:c.1759G>T NP_001166281.1:p.Glu587Ter
NM_001353167.1:c.1927G>T NP_001340096.1:p.Glu643Ter
NM_001353167.2:c.1927G>T NP_001340096.1:p.Glu643Ter
NM_023036.4:c.1795G>T NP_075462.3:p.Glu599Ter
NM_023036.5:c.1795G>T NP_075462.3:p.Glu599Ter
NR_148379.1:n.1665G>T
NR_148379.2:n.1641G>T
ENST00000311014.10:c.1795G>T ENSP00000308312.6:p.Glu599Ter
ENST00000446837.2:c.1795G>T ENSP00000400252.2:p.Glu599Ter
ENST00000579055.5:c.*1011G>T ENSP00000462767.1:n.*1011G>T
ENST00000579312.1:n.350G>T
ENST00000579490.5:c.1966G>T ENSP00000464197.1:p.Glu656Ter
ENST00000582036.5:c.1759G>T ENSP00000461950.1:p.Glu587Ter
XM_011525125.1:c.1927G>T XP_011523427.1:p.Glu643Ter
XM_011525125.2:c.1927G>T XP_011523427.1:p.Glu643Ter
XM_024450874.1:c.1927G>T XP_024306642.1:p.Glu643Ter
XM_024450875.1:c.1927G>T XP_024306643.1:p.Glu643Ter
XM_024450876.1:c.1927G>T XP_024306644.1:p.Glu643Ter
XM_024450877.1:c.1927G>T XP_024306645.1:p.Glu643Ter
XM_024450878.1:c.1927G>T XP_024306646.1:p.Glu643Ter
XM_024450879.1:c.*560G>T XP_024306647.1:n.*560G>T
XM_024450880.1:c.1891G>T XP_024306648.1:p.Glu631Ter
XM_024450881.1:c.1813G>T XP_024306649.1:p.Glu605Ter
XM_024450882.1:c.1759G>T XP_024306650.1:p.Glu587Ter
XM_024450883.1:c.*2G>T XP_024306651.1:n.*2G>T
XM_024450884.1:c.*2G>T XP_024306652.1:n.*2G>T
XM_024450885.1:c.1498G>T XP_024306653.1:p.Glu500Ter
XM_024450886.1:c.1498G>T XP_024306654.1:p.Glu500Ter
XR_429915.2:n.1881G>T
XR_429916.2:n.1689G>T
XR_934518.1:n.2051G>T
XR_934519.1:n.2048G>T
XR_934520.1:n.2124G>T
XR_934521.1:n.2036G>T
XR_934522.1:n.2024G>T
XR_934523.1:n.2033G>T
XR_934524.1:n.2631G>T
XR_934525.1:n.2015G>T
XR_934526.1:n.1937G>T
XR_934527.1:n.1762G>T
XR_934528.1:n.1762G>T
XR_934529.1:n.1930G>T
XR_934530.1:n.2003G>T
XR_934531.1:n.1642G>T
XR_934970.1:n.297-1416C>A
XR_934970.2:n.301-1416C>A
XR_934971.1:n.131-1416C>A
XR_934971.2:n.136-1416C>A