Canonical Allele Identifier: CA400912070

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74309329G>C , CM000679.2:g.74309329G>C	GRCh38
NC_000017.10:g.72305468G>C , CM000679.1:g.72305468G>C	GRCh37
NC_000017.9:g.69817063G>C	NCBI36
NG_016865.1:g.40083G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1288G>C MANE Select	NP_075462.3:p.Gly430Arg
ENST00000311014.11:c.1288G>C MANE Select	ENSP00000308312.6:p.Gly430Arg
NM_001172810.1:c.1288G>C	NP_001166281.1:p.Gly430Arg
NM_001172810.2:c.1288G>C	NP_001166281.1:p.Gly430Arg
NM_001172810.3:c.1288G>C	NP_001166281.1:p.Gly430Arg
NM_001353167.1:c.1288G>C	NP_001340096.1:p.Gly430Arg
NM_001353167.2:c.1288G>C	NP_001340096.1:p.Gly430Arg
NM_023036.4:c.1288G>C	NP_075462.3:p.Gly430Arg
NM_023036.5:c.1288G>C	NP_075462.3:p.Gly430Arg
NR_148379.1:n.1313G>C
NR_148379.2:n.1289G>C
ENST00000311014.10:c.1288G>C	ENSP00000308312.6:p.Gly430Arg
ENST00000446837.2:c.1288G>C	ENSP00000400252.2:p.Gly430Arg
ENST00000579055.5:c.*659G>C	ENSP00000462767.1:n.*659G>C
ENST00000579490.5:c.1459G>C	ENSP00000464197.1:p.Gly487Arg
ENST00000582036.5:c.1288G>C	ENSP00000461950.1:p.Gly430Arg
XM_011525125.1:c.1288G>C	XP_011523427.1:p.Gly430Arg
XM_011525125.2:c.1288G>C	XP_011523427.1:p.Gly430Arg
XM_024450874.1:c.1288G>C	XP_024306642.1:p.Gly430Arg
XM_024450875.1:c.1288G>C	XP_024306643.1:p.Gly430Arg
XM_024450876.1:c.1288G>C	XP_024306644.1:p.Gly430Arg
XM_024450877.1:c.1288G>C	XP_024306645.1:p.Gly430Arg
XM_024450878.1:c.1288G>C	XP_024306646.1:p.Gly430Arg
XM_024450879.1:c.1288G>C	XP_024306647.1:p.Gly430Arg
XM_024450880.1:c.1288G>C	XP_024306648.1:p.Gly430Arg
XM_024450881.1:c.1174G>C	XP_024306649.1:p.Gly392Arg
XM_024450882.1:c.1288G>C	XP_024306650.1:p.Gly430Arg
XM_024450883.1:c.1288G>C	XP_024306651.1:p.Gly430Arg
XM_024450884.1:c.1288G>C	XP_024306652.1:p.Gly430Arg
XM_024450885.1:c.859G>C	XP_024306653.1:p.Gly287Arg
XM_024450886.1:c.859G>C	XP_024306654.1:p.Gly287Arg
XR_429915.2:n.1410G>C
XR_429916.2:n.1410G>C
XR_934518.1:n.1412G>C
XR_934519.1:n.1409G>C
XR_934520.1:n.1485G>C
XR_934521.1:n.1397G>C
XR_934522.1:n.1385G>C
XR_934523.1:n.1394G>C
XR_934524.1:n.1412G>C
XR_934525.1:n.1412G>C
XR_934526.1:n.1298G>C
XR_934527.1:n.1410G>C
XR_934528.1:n.1410G>C
XR_934529.1:n.1291G>C
XR_934530.1:n.1364G>C
XR_934531.1:n.1290G>C