Canonical Allele Identifier: CA8745849

Gene: DNAI2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74312136C>T , CM000679.2:g.74312136C>T	GRCh38
NC_000017.10:g.72308275C>T , CM000679.1:g.72308275C>T	GRCh37
NC_000017.9:g.69819870C>T	NCBI36
NG_016865.1:g.42890C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_023036.6:c.1628C>T MANE Select	NP_075462.3:p.Ala543Val
ENST00000311014.11:c.1628C>T MANE Select	ENSP00000308312.6:p.Ala543Val
NM_001172810.1:c.1592C>T	NP_001166281.1:p.Ala531Val
NM_001172810.2:c.1592C>T	NP_001166281.1:p.Ala531Val
NM_001172810.3:c.1592C>T	NP_001166281.1:p.Ala531Val
NM_001353167.1:c.1628C>T	NP_001340096.1:p.Ala543Val
NM_001353167.2:c.1628C>T	NP_001340096.1:p.Ala543Val
NM_023036.4:c.1628C>T	NP_075462.3:p.Ala543Val
NM_023036.5:c.1628C>T	NP_075462.3:p.Ala543Val
NR_148379.1:n.1592+61C>T
NR_148379.2:n.1568+61C>T
ENST00000311014.10:c.1628C>T	ENSP00000308312.6:p.Ala543Val
ENST00000446837.2:c.1628C>T	ENSP00000400252.2:p.Ala543Val
ENST00000579055.5:c.*938+61C>T	ENSP00000462767.1:n.*938+61C>T
ENST00000579490.5:c.1799C>T	ENSP00000464197.1:p.Ala600Val
ENST00000582036.5:c.1592C>T	ENSP00000461950.1:p.Ala531Val
XM_011525125.1:c.1628C>T	XP_011523427.1:p.Ala543Val
XM_011525125.2:c.1628C>T	XP_011523427.1:p.Ala543Val
XM_024450874.1:c.1628C>T	XP_024306642.1:p.Ala543Val
XM_024450875.1:c.1628C>T	XP_024306643.1:p.Ala543Val
XM_024450876.1:c.1628C>T	XP_024306644.1:p.Ala543Val
XM_024450877.1:c.1628C>T	XP_024306645.1:p.Ala543Val
XM_024450878.1:c.1628C>T	XP_024306646.1:p.Ala543Val
XM_024450879.1:c.1628C>T	XP_024306647.1:p.Ala543Val
XM_024450880.1:c.1592C>T	XP_024306648.1:p.Ala531Val
XM_024450881.1:c.1514C>T	XP_024306649.1:p.Ala505Val
XM_024450882.1:c.1592C>T	XP_024306650.1:p.Ala531Val
XM_024450883.1:c.1567+61C>T	XP_024306651.1:n.1567+61C>T
XM_024450884.1:c.1567+61C>T	XP_024306652.1:n.1567+61C>T
XM_024450885.1:c.1199C>T	XP_024306653.1:p.Ala400Val
XM_024450886.1:c.1199C>T	XP_024306654.1:p.Ala400Val
XR_429915.2:n.1714C>T
XR_429916.2:n.1616+1973C>T
XR_934518.1:n.1752C>T
XR_934519.1:n.1749C>T
XR_934520.1:n.1825C>T
XR_934521.1:n.1737C>T
XR_934522.1:n.1725C>T
XR_934523.1:n.1734C>T
XR_934524.1:n.1752C>T
XR_934525.1:n.1716C>T
XR_934526.1:n.1638C>T
XR_934527.1:n.1689+61C>T
XR_934528.1:n.1689+61C>T
XR_934529.1:n.1631C>T
XR_934530.1:n.1704C>T
XR_934531.1:n.1569+61C>T
XR_934970.1:n.469G>A
XR_934970.2:n.473G>A
XR_934971.1:n.303G>A
XR_934971.2:n.308G>A