Canonical Allele Identifier: CA400909445

Gene: DNAI2

Linked Data

• MyVariant Identifiers: chr17:g.72297295C>A (hg19) ; chr17:g.74301156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301156C>A , CM000679.2:g.74301156C>A	GRCh38
NC_000017.10:g.72297295C>A , CM000679.1:g.72297295C>A	GRCh37
NC_000017.9:g.69808890C>A	NCBI36
NG_016865.1:g.31910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.975C>A MANE Select	ENSP00000308312.6:p.Phe325Leu
ENST00000311014.10:c.975C>A	ENSP00000308312.6:p.Phe325Leu
ENST00000446837.2:c.975C>A	ENSP00000400252.2:p.Phe325Leu
ENST00000579055.5:c.*346C>A	ENSP00000462767.1:n.*346C>A
ENST00000579490.5:c.1146C>A	ENSP00000464197.1:p.Phe382Leu
ENST00000582036.5:c.975C>A	ENSP00000461950.1:p.Phe325Leu
NM_001172810.1:c.975C>A	NP_001166281.1:p.Phe325Leu
NM_023036.4:c.975C>A	NP_075462.3:p.Phe325Leu
XM_011525125.1:c.975C>A	XP_011523427.1:p.Phe325Leu
XR_429915.2:n.1097C>A
XR_429916.2:n.1097C>A
XR_934518.1:n.1099C>A
XR_934519.1:n.1096C>A
XR_934520.1:n.1172C>A
XR_934521.1:n.1084C>A
XR_934522.1:n.1072C>A
XR_934523.1:n.1081C>A
XR_934524.1:n.1099C>A
XR_934525.1:n.1099C>A
XR_934526.1:n.985C>A
XR_934527.1:n.1097C>A
XR_934528.1:n.1097C>A
XR_934529.1:n.978C>A
XR_934530.1:n.1051C>A
XR_934531.1:n.977C>A
NM_001172810.2:c.975C>A	NP_001166281.1:p.Phe325Leu
NM_001353167.1:c.975C>A	NP_001340096.1:p.Phe325Leu
NM_023036.5:c.975C>A	NP_075462.3:p.Phe325Leu
NR_148379.1:n.1000C>A
XM_011525125.2:c.975C>A	XP_011523427.1:p.Phe325Leu
XM_024450874.1:c.975C>A	XP_024306642.1:p.Phe325Leu
XM_024450875.1:c.975C>A	XP_024306643.1:p.Phe325Leu
XM_024450876.1:c.975C>A	XP_024306644.1:p.Phe325Leu
XM_024450877.1:c.975C>A	XP_024306645.1:p.Phe325Leu
XM_024450878.1:c.975C>A	XP_024306646.1:p.Phe325Leu
XM_024450879.1:c.975C>A	XP_024306647.1:p.Phe325Leu
XM_024450880.1:c.975C>A	XP_024306648.1:p.Phe325Leu
XM_024450881.1:c.861C>A	XP_024306649.1:p.Phe287Leu
XM_024450882.1:c.975C>A	XP_024306650.1:p.Phe325Leu
XM_024450883.1:c.975C>A	XP_024306651.1:p.Phe325Leu
XM_024450884.1:c.975C>A	XP_024306652.1:p.Phe325Leu
XM_024450885.1:c.546C>A	XP_024306653.1:p.Phe182Leu
XM_024450886.1:c.546C>A	XP_024306654.1:p.Phe182Leu
NM_023036.6:c.975C>A MANE Select	NP_075462.3:p.Phe325Leu
NM_001172810.3:c.975C>A	NP_001166281.1:p.Phe325Leu
NM_001353167.2:c.975C>A	NP_001340096.1:p.Phe325Leu
NR_148379.2:n.976C>A