Canonical Allele Identifier: CA8745825

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74312041G>T , CM000679.2:g.74312041G>T	GRCh38
NC_000017.10:g.72308180G>T , CM000679.1:g.72308180G>T	GRCh37
NC_000017.9:g.69819775G>T	NCBI36
NG_016865.1:g.42795G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1533G>T MANE Select	NP_075462.3:p.Glu511Asp
ENST00000311014.11:c.1533G>T MANE Select	ENSP00000308312.6:p.Glu511Asp
NM_001172810.1:c.1497G>T	NP_001166281.1:p.Glu499Asp
NM_001172810.2:c.1497G>T	NP_001166281.1:p.Glu499Asp
NM_001172810.3:c.1497G>T	NP_001166281.1:p.Glu499Asp
NM_001353167.1:c.1533G>T	NP_001340096.1:p.Glu511Asp
NM_001353167.2:c.1533G>T	NP_001340096.1:p.Glu511Asp
NM_023036.4:c.1533G>T	NP_075462.3:p.Glu511Asp
NM_023036.5:c.1533G>T	NP_075462.3:p.Glu511Asp
NR_148379.1:n.1558G>T
NR_148379.2:n.1534G>T
ENST00000311014.10:c.1533G>T	ENSP00000308312.6:p.Glu511Asp
ENST00000446837.2:c.1533G>T	ENSP00000400252.2:p.Glu511Asp
ENST00000579055.5:c.*904G>T	ENSP00000462767.1:n.*904G>T
ENST00000579490.5:c.1704G>T	ENSP00000464197.1:p.Glu568Asp
ENST00000582036.5:c.1497G>T	ENSP00000461950.1:p.Glu499Asp
XM_011525125.1:c.1533G>T	XP_011523427.1:p.Glu511Asp
XM_011525125.2:c.1533G>T	XP_011523427.1:p.Glu511Asp
XM_024450874.1:c.1533G>T	XP_024306642.1:p.Glu511Asp
XM_024450875.1:c.1533G>T	XP_024306643.1:p.Glu511Asp
XM_024450876.1:c.1533G>T	XP_024306644.1:p.Glu511Asp
XM_024450877.1:c.1533G>T	XP_024306645.1:p.Glu511Asp
XM_024450878.1:c.1533G>T	XP_024306646.1:p.Glu511Asp
XM_024450879.1:c.1533G>T	XP_024306647.1:p.Glu511Asp
XM_024450880.1:c.1497G>T	XP_024306648.1:p.Glu499Asp
XM_024450881.1:c.1419G>T	XP_024306649.1:p.Glu473Asp
XM_024450882.1:c.1497G>T	XP_024306650.1:p.Glu499Asp
XM_024450883.1:c.1533G>T	XP_024306651.1:p.Glu511Asp
XM_024450884.1:c.1533G>T	XP_024306652.1:p.Glu511Asp
XM_024450885.1:c.1104G>T	XP_024306653.1:p.Glu368Asp
XM_024450886.1:c.1104G>T	XP_024306654.1:p.Glu368Asp
XR_429915.2:n.1619G>T
XR_429916.2:n.1616+1878G>T
XR_934518.1:n.1657G>T
XR_934519.1:n.1654G>T
XR_934520.1:n.1730G>T
XR_934521.1:n.1642G>T
XR_934522.1:n.1630G>T
XR_934523.1:n.1639G>T
XR_934524.1:n.1657G>T
XR_934525.1:n.1621G>T
XR_934526.1:n.1543G>T
XR_934527.1:n.1655G>T
XR_934528.1:n.1655G>T
XR_934529.1:n.1536G>T
XR_934530.1:n.1609G>T
XR_934531.1:n.1535G>T