Canonical Allele Identifier: CA8745920

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74314174G>A , CM000679.2:g.74314174G>A	GRCh38
NC_000017.10:g.72310313G>A , CM000679.1:g.72310313G>A	GRCh37
NC_000017.9:g.69821908G>A	NCBI36
NG_016865.1:g.44928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1776G>A MANE Select	NP_075462.3:p.Ala592=
ENST00000311014.11:c.1776G>A MANE Select	ENSP00000308312.6:p.Ala592=
NM_001172810.1:c.1740G>A	NP_001166281.1:p.Ala580=
NM_001172810.2:c.1740G>A	NP_001166281.1:p.Ala580=
NM_001172810.3:c.1740G>A	NP_001166281.1:p.Ala580=
NM_001353167.1:c.1908G>A	NP_001340096.1:p.Ala636=
NM_001353167.2:c.1908G>A	NP_001340096.1:p.Ala636=
NM_023036.4:c.1776G>A	NP_075462.3:p.Ala592=
NM_023036.5:c.1776G>A	NP_075462.3:p.Ala592=
NR_148379.1:n.1646G>A
NR_148379.2:n.1622G>A
ENST00000311014.10:c.1776G>A	ENSP00000308312.6:p.Ala592=
ENST00000446837.2:c.1776G>A	ENSP00000400252.2:p.Ala592=
ENST00000579055.5:c.*992G>A	ENSP00000462767.1:n.*992G>A
ENST00000579312.1:n.331G>A
ENST00000579490.5:c.1947G>A	ENSP00000464197.1:p.Ala649=
ENST00000582036.5:c.1740G>A	ENSP00000461950.1:p.Ala580=
XM_011525125.1:c.1908G>A	XP_011523427.1:p.Ala636=
XM_011525125.2:c.1908G>A	XP_011523427.1:p.Ala636=
XM_024450874.1:c.1908G>A	XP_024306642.1:p.Ala636=
XM_024450875.1:c.1908G>A	XP_024306643.1:p.Ala636=
XM_024450876.1:c.1908G>A	XP_024306644.1:p.Ala636=
XM_024450877.1:c.1908G>A	XP_024306645.1:p.Ala636=
XM_024450878.1:c.1908G>A	XP_024306646.1:p.Ala636=
XM_024450879.1:c.*541G>A	XP_024306647.1:n.*541G>A
XM_024450880.1:c.1872G>A	XP_024306648.1:p.Ala624=
XM_024450881.1:c.1794G>A	XP_024306649.1:p.Ala598=
XM_024450882.1:c.1740G>A	XP_024306650.1:p.Ala580=
XM_024450883.1:c.1621G>A	XP_024306651.1:p.Gly541Arg
XM_024450884.1:c.1621G>A	XP_024306652.1:p.Gly541Arg
XM_024450885.1:c.1479G>A	XP_024306653.1:p.Ala493=
XM_024450886.1:c.1479G>A	XP_024306654.1:p.Ala493=
XR_429915.2:n.1862G>A
XR_429916.2:n.1670G>A
XR_934518.1:n.2032G>A
XR_934519.1:n.2029G>A
XR_934520.1:n.2105G>A
XR_934521.1:n.2017G>A
XR_934522.1:n.2005G>A
XR_934523.1:n.2014G>A
XR_934524.1:n.2612G>A
XR_934525.1:n.1996G>A
XR_934526.1:n.1918G>A
XR_934527.1:n.1743G>A
XR_934528.1:n.1743G>A
XR_934529.1:n.1911G>A
XR_934530.1:n.1984G>A
XR_934531.1:n.1623G>A
XR_934970.1:n.297-1397C>T
XR_934970.2:n.301-1397C>T
XR_934971.1:n.131-1397C>T
XR_934971.2:n.136-1397C>T