Canonical Allele Identifier: CA8745863

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74312191G>A , CM000679.2:g.74312191G>A	GRCh38
NC_000017.10:g.72308330G>A , CM000679.1:g.72308330G>A	GRCh37
NC_000017.9:g.69819925G>A	NCBI36
NG_016865.1:g.42945G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1683G>A MANE Select	NP_075462.3:p.Lys561=
ENST00000311014.11:c.1683G>A MANE Select	ENSP00000308312.6:p.Lys561=
NM_001172810.1:c.1647G>A	NP_001166281.1:p.Lys549=
NM_001172810.2:c.1647G>A	NP_001166281.1:p.Lys549=
NM_001172810.3:c.1647G>A	NP_001166281.1:p.Lys549=
NM_001353167.1:c.1683G>A	NP_001340096.1:p.Lys561=
NM_001353167.2:c.1683G>A	NP_001340096.1:p.Lys561=
NM_023036.4:c.1683G>A	NP_075462.3:p.Lys561=
NM_023036.5:c.1683G>A	NP_075462.3:p.Lys561=
NR_148379.1:n.1592+116G>A
NR_148379.2:n.1568+116G>A
ENST00000311014.10:c.1683G>A	ENSP00000308312.6:p.Lys561=
ENST00000446837.2:c.1683G>A	ENSP00000400252.2:p.Lys561=
ENST00000579055.5:c.*938+116G>A	ENSP00000462767.1:n.*938+116G>A
ENST00000579490.5:c.1854G>A	ENSP00000464197.1:p.Lys618=
ENST00000582036.5:c.1647G>A	ENSP00000461950.1:p.Lys549=
XM_011525125.1:c.1683G>A	XP_011523427.1:p.Lys561=
XM_011525125.2:c.1683G>A	XP_011523427.1:p.Lys561=
XM_024450874.1:c.1683G>A	XP_024306642.1:p.Lys561=
XM_024450875.1:c.1683G>A	XP_024306643.1:p.Lys561=
XM_024450876.1:c.1683G>A	XP_024306644.1:p.Lys561=
XM_024450877.1:c.1683G>A	XP_024306645.1:p.Lys561=
XM_024450878.1:c.1683G>A	XP_024306646.1:p.Lys561=
XM_024450879.1:c.1683G>A	XP_024306647.1:p.Lys561=
XM_024450880.1:c.1647G>A	XP_024306648.1:p.Lys549=
XM_024450881.1:c.1569G>A	XP_024306649.1:p.Lys523=
XM_024450882.1:c.1647G>A	XP_024306650.1:p.Lys549=
XM_024450883.1:c.1567+116G>A	XP_024306651.1:n.1567+116G>A
XM_024450884.1:c.1567+116G>A	XP_024306652.1:n.1567+116G>A
XM_024450885.1:c.1254G>A	XP_024306653.1:p.Lys418=
XM_024450886.1:c.1254G>A	XP_024306654.1:p.Lys418=
XR_429915.2:n.1769G>A
XR_429916.2:n.1617-1930G>A
XR_934518.1:n.1807G>A
XR_934519.1:n.1804G>A
XR_934520.1:n.1880G>A
XR_934521.1:n.1792G>A
XR_934522.1:n.1780G>A
XR_934523.1:n.1789G>A
XR_934524.1:n.1807G>A
XR_934525.1:n.1771G>A
XR_934526.1:n.1693G>A
XR_934527.1:n.1689+116G>A
XR_934528.1:n.1689+116G>A
XR_934529.1:n.1686G>A
XR_934530.1:n.1759G>A
XR_934531.1:n.1569+116G>A
XR_934970.1:n.420-6C>T
XR_934970.2:n.424-6C>T
XR_934971.1:n.254-6C>T
XR_934971.2:n.259-6C>T