Canonical Allele Identifier: CA8745791

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74310164G>T , CM000679.2:g.74310164G>T	GRCh38
NC_000017.10:g.72306303G>T , CM000679.1:g.72306303G>T	GRCh37
NC_000017.9:g.69817898G>T	NCBI36
NG_016865.1:g.40918G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1494+1G>T MANE Select	NP_075462.3:n.1494+1G>T
ENST00000311014.11:c.1494+1G>T MANE Select	ENSP00000308312.6:n.1494+1G>T
NM_001172810.1:c.1458+1G>T	NP_001166281.1:n.1458+1G>T
NM_001172810.2:c.1458+1G>T	NP_001166281.1:n.1458+1G>T
NM_001172810.3:c.1458+1G>T	NP_001166281.1:n.1458+1G>T
NM_001353167.1:c.1494+1G>T	NP_001340096.1:n.1494+1G>T
NM_001353167.2:c.1494+1G>T	NP_001340096.1:n.1494+1G>T
NM_023036.4:c.1494+1G>T	NP_075462.3:n.1494+1G>T
NM_023036.5:c.1494+1G>T	NP_075462.3:n.1494+1G>T
NR_148379.1:n.1519+1G>T
NR_148379.2:n.1495+1G>T
ENST00000311014.10:c.1494+1G>T	ENSP00000308312.6:n.1494+1G>T
ENST00000446837.2:c.1494+1G>T	ENSP00000400252.2:n.1494+1G>T
ENST00000579055.5:c.*865+1G>T	ENSP00000462767.1:n.*865+1G>T
ENST00000579490.5:c.1665+1G>T	ENSP00000464197.1:n.1665+1G>T
ENST00000582036.5:c.1458+1G>T	ENSP00000461950.1:n.1458+1G>T
XM_011525125.1:c.1494+1G>T	XP_011523427.1:n.1494+1G>T
XM_011525125.2:c.1494+1G>T	XP_011523427.1:n.1494+1G>T
XM_024450874.1:c.1494+1G>T	XP_024306642.1:n.1494+1G>T
XM_024450875.1:c.1494+1G>T	XP_024306643.1:n.1494+1G>T
XM_024450876.1:c.1494+1G>T	XP_024306644.1:n.1494+1G>T
XM_024450877.1:c.1494+1G>T	XP_024306645.1:n.1494+1G>T
XM_024450878.1:c.1494+1G>T	XP_024306646.1:n.1494+1G>T
XM_024450879.1:c.1494+1G>T	XP_024306647.1:n.1494+1G>T
XM_024450880.1:c.1458+1G>T	XP_024306648.1:n.1458+1G>T
XM_024450881.1:c.1380+1G>T	XP_024306649.1:n.1380+1G>T
XM_024450882.1:c.1458+1G>T	XP_024306650.1:n.1458+1G>T
XM_024450883.1:c.1494+1G>T	XP_024306651.1:n.1494+1G>T
XM_024450884.1:c.1494+1G>T	XP_024306652.1:n.1494+1G>T
XM_024450885.1:c.1065+1G>T	XP_024306653.1:n.1065+1G>T
XM_024450886.1:c.1065+1G>T	XP_024306654.1:n.1065+1G>T
XR_429915.2:n.1580+1G>T
XR_429916.2:n.1616+1G>T
XR_934518.1:n.1618+1G>T
XR_934519.1:n.1615+1G>T
XR_934520.1:n.1691+1G>T
XR_934521.1:n.1603+1G>T
XR_934522.1:n.1591+1G>T
XR_934523.1:n.1600+1G>T
XR_934524.1:n.1618+1G>T
XR_934525.1:n.1582+1G>T
XR_934526.1:n.1504+1G>T
XR_934527.1:n.1616+1G>T
XR_934528.1:n.1616+1G>T
XR_934529.1:n.1497+1G>T
XR_934530.1:n.1570+1G>T
XR_934531.1:n.1496+1G>T