Canonical Allele Identifier: CA8745820

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74312024C>A , CM000679.2:g.74312024C>A	GRCh38
NC_000017.10:g.72308163C>A , CM000679.1:g.72308163C>A	GRCh37
NC_000017.9:g.69819758C>A	NCBI36
NG_016865.1:g.42778C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1516C>A MANE Select	NP_075462.3:p.Arg506=
ENST00000311014.11:c.1516C>A MANE Select	ENSP00000308312.6:p.Arg506=
NM_001172810.1:c.1480C>A	NP_001166281.1:p.Arg494=
NM_001172810.2:c.1480C>A	NP_001166281.1:p.Arg494=
NM_001172810.3:c.1480C>A	NP_001166281.1:p.Arg494=
NM_001353167.1:c.1516C>A	NP_001340096.1:p.Arg506=
NM_001353167.2:c.1516C>A	NP_001340096.1:p.Arg506=
NM_023036.4:c.1516C>A	NP_075462.3:p.Arg506=
NM_023036.5:c.1516C>A	NP_075462.3:p.Arg506=
NR_148379.1:n.1541C>A
NR_148379.2:n.1517C>A
ENST00000311014.10:c.1516C>A	ENSP00000308312.6:p.Arg506=
ENST00000446837.2:c.1516C>A	ENSP00000400252.2:p.Arg506=
ENST00000579055.5:c.*887C>A	ENSP00000462767.1:n.*887C>A
ENST00000579490.5:c.1687C>A	ENSP00000464197.1:p.Arg563=
ENST00000582036.5:c.1480C>A	ENSP00000461950.1:p.Arg494=
XM_011525125.1:c.1516C>A	XP_011523427.1:p.Arg506=
XM_011525125.2:c.1516C>A	XP_011523427.1:p.Arg506=
XM_024450874.1:c.1516C>A	XP_024306642.1:p.Arg506=
XM_024450875.1:c.1516C>A	XP_024306643.1:p.Arg506=
XM_024450876.1:c.1516C>A	XP_024306644.1:p.Arg506=
XM_024450877.1:c.1516C>A	XP_024306645.1:p.Arg506=
XM_024450878.1:c.1516C>A	XP_024306646.1:p.Arg506=
XM_024450879.1:c.1516C>A	XP_024306647.1:p.Arg506=
XM_024450880.1:c.1480C>A	XP_024306648.1:p.Arg494=
XM_024450881.1:c.1402C>A	XP_024306649.1:p.Arg468=
XM_024450882.1:c.1480C>A	XP_024306650.1:p.Arg494=
XM_024450883.1:c.1516C>A	XP_024306651.1:p.Arg506=
XM_024450884.1:c.1516C>A	XP_024306652.1:p.Arg506=
XM_024450885.1:c.1087C>A	XP_024306653.1:p.Arg363=
XM_024450886.1:c.1087C>A	XP_024306654.1:p.Arg363=
XR_429915.2:n.1602C>A
XR_429916.2:n.1616+1861C>A
XR_934518.1:n.1640C>A
XR_934519.1:n.1637C>A
XR_934520.1:n.1713C>A
XR_934521.1:n.1625C>A
XR_934522.1:n.1613C>A
XR_934523.1:n.1622C>A
XR_934524.1:n.1640C>A
XR_934525.1:n.1604C>A
XR_934526.1:n.1526C>A
XR_934527.1:n.1638C>A
XR_934528.1:n.1638C>A
XR_934529.1:n.1519C>A
XR_934530.1:n.1592C>A
XR_934531.1:n.1518C>A