Canonical Allele Identifier: CA400912752

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74310076C>A , CM000679.2:g.74310076C>A	GRCh38
NC_000017.10:g.72306215C>A , CM000679.1:g.72306215C>A	GRCh37
NC_000017.9:g.69817810C>A	NCBI36
NG_016865.1:g.40830C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1407C>A MANE Select	NP_075462.3:p.Cys469Ter
ENST00000311014.11:c.1407C>A MANE Select	ENSP00000308312.6:p.Cys469Ter
NM_001172810.1:c.1371C>A	NP_001166281.1:p.Cys457Ter
NM_001172810.2:c.1371C>A	NP_001166281.1:p.Cys457Ter
NM_001172810.3:c.1371C>A	NP_001166281.1:p.Cys457Ter
NM_001353167.1:c.1407C>A	NP_001340096.1:p.Cys469Ter
NM_001353167.2:c.1407C>A	NP_001340096.1:p.Cys469Ter
NM_023036.4:c.1407C>A	NP_075462.3:p.Cys469Ter
NM_023036.5:c.1407C>A	NP_075462.3:p.Cys469Ter
NR_148379.1:n.1432C>A
NR_148379.2:n.1408C>A
ENST00000311014.10:c.1407C>A	ENSP00000308312.6:p.Cys469Ter
ENST00000446837.2:c.1407C>A	ENSP00000400252.2:p.Cys469Ter
ENST00000579055.5:c.*778C>A	ENSP00000462767.1:n.*778C>A
ENST00000579490.5:c.1578C>A	ENSP00000464197.1:p.Cys526Ter
ENST00000582036.5:c.1371C>A	ENSP00000461950.1:p.Cys457Ter
XM_011525125.1:c.1407C>A	XP_011523427.1:p.Cys469Ter
XM_011525125.2:c.1407C>A	XP_011523427.1:p.Cys469Ter
XM_024450874.1:c.1407C>A	XP_024306642.1:p.Cys469Ter
XM_024450875.1:c.1407C>A	XP_024306643.1:p.Cys469Ter
XM_024450876.1:c.1407C>A	XP_024306644.1:p.Cys469Ter
XM_024450877.1:c.1407C>A	XP_024306645.1:p.Cys469Ter
XM_024450878.1:c.1407C>A	XP_024306646.1:p.Cys469Ter
XM_024450879.1:c.1407C>A	XP_024306647.1:p.Cys469Ter
XM_024450880.1:c.1371C>A	XP_024306648.1:p.Cys457Ter
XM_024450881.1:c.1293C>A	XP_024306649.1:p.Cys431Ter
XM_024450882.1:c.1371C>A	XP_024306650.1:p.Cys457Ter
XM_024450883.1:c.1407C>A	XP_024306651.1:p.Cys469Ter
XM_024450884.1:c.1407C>A	XP_024306652.1:p.Cys469Ter
XM_024450885.1:c.978C>A	XP_024306653.1:p.Cys326Ter
XM_024450886.1:c.978C>A	XP_024306654.1:p.Cys326Ter
XR_429915.2:n.1493C>A
XR_429916.2:n.1529C>A
XR_934518.1:n.1531C>A
XR_934519.1:n.1528C>A
XR_934520.1:n.1604C>A
XR_934521.1:n.1516C>A
XR_934522.1:n.1504C>A
XR_934523.1:n.1513C>A
XR_934524.1:n.1531C>A
XR_934525.1:n.1495C>A
XR_934526.1:n.1417C>A
XR_934527.1:n.1529C>A
XR_934528.1:n.1529C>A
XR_934529.1:n.1410C>A
XR_934530.1:n.1483C>A
XR_934531.1:n.1409C>A