Canonical Allele Identifier: CA8745869
Community Standard Title: NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met)
Gene: DNAI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74312220C>T , CM000679.2:g.74312220C>T GRCh38
NC_000017.10:g.72308359C>T , CM000679.1:g.72308359C>T GRCh37
NC_000017.9:g.69819954C>T NCBI36
NG_016865.1:g.42974C>T

Transcript Alleles

HGVS Amino-acid Change
NM_023036.6:c.1712C>T MANE Select NP_075462.3:p.Thr571Met
ENST00000311014.11:c.1712C>T MANE Select ENSP00000308312.6:p.Thr571Met
NM_001172810.1:c.1676C>T NP_001166281.1:p.Thr559Met
NM_001172810.2:c.1676C>T NP_001166281.1:p.Thr559Met
NM_001172810.3:c.1676C>T NP_001166281.1:p.Thr559Met
NM_001353167.1:c.1712C>T NP_001340096.1:p.Thr571Met
NM_001353167.2:c.1712C>T NP_001340096.1:p.Thr571Met
NM_023036.4:c.1712C>T NP_075462.3:p.Thr571Met
NM_023036.5:c.1712C>T NP_075462.3:p.Thr571Met
NR_148379.1:n.1592+145C>T
NR_148379.2:n.1568+145C>T
ENST00000311014.10:c.1712C>T ENSP00000308312.6:p.Thr571Met
ENST00000446837.2:c.1712C>T ENSP00000400252.2:p.Thr571Met
ENST00000579055.5:c.*938+145C>T ENSP00000462767.1:n.*938+145C>T
ENST00000579490.5:c.1883C>T ENSP00000464197.1:p.Thr628Met
ENST00000582036.5:c.1676C>T ENSP00000461950.1:p.Thr559Met
XM_011525125.1:c.1712C>T XP_011523427.1:p.Thr571Met
XM_011525125.2:c.1712C>T XP_011523427.1:p.Thr571Met
XM_024450874.1:c.1712C>T XP_024306642.1:p.Thr571Met
XM_024450875.1:c.1712C>T XP_024306643.1:p.Thr571Met
XM_024450876.1:c.1712C>T XP_024306644.1:p.Thr571Met
XM_024450877.1:c.1712C>T XP_024306645.1:p.Thr571Met
XM_024450878.1:c.1712C>T XP_024306646.1:p.Thr571Met
XM_024450879.1:c.1712C>T XP_024306647.1:p.Thr571Met
XM_024450880.1:c.1676C>T XP_024306648.1:p.Thr559Met
XM_024450881.1:c.1598C>T XP_024306649.1:p.Thr533Met
XM_024450882.1:c.1676C>T XP_024306650.1:p.Thr559Met
XM_024450883.1:c.1567+145C>T XP_024306651.1:n.1567+145C>T
XM_024450884.1:c.1567+145C>T XP_024306652.1:n.1567+145C>T
XM_024450885.1:c.1283C>T XP_024306653.1:p.Thr428Met
XM_024450886.1:c.1283C>T XP_024306654.1:p.Thr428Met
XR_429915.2:n.1798C>T
XR_429916.2:n.1617-1901C>T
XR_934518.1:n.1836C>T
XR_934519.1:n.1833C>T
XR_934520.1:n.1909C>T
XR_934521.1:n.1821C>T
XR_934522.1:n.1809C>T
XR_934523.1:n.1818C>T
XR_934524.1:n.1836C>T
XR_934525.1:n.1800C>T
XR_934526.1:n.1722C>T
XR_934527.1:n.1689+145C>T
XR_934528.1:n.1689+145C>T
XR_934529.1:n.1715C>T
XR_934530.1:n.1788C>T
XR_934531.1:n.1569+145C>T
XR_934970.1:n.420-35G>A
XR_934970.2:n.424-35G>A
XR_934971.1:n.254-35G>A
XR_934971.2:n.259-35G>A