Canonical Allele Identifier: CA293857393

Gene: DNAI2

Linked Data

• ClinVar Variation Id: 1506454
• ClinVar RCV Id: RCV002006743
• dbSNP Id: rs374277039
• gnomAD v2: 17-72297242-A-G
• gnomAD v3: 17-74301103-A-G
• gnomAD v4: 17-74301103-A-G
• MyVariant Identifiers: chr17:g.72297242A>G (hg19) ; chr17:g.74301103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301103A>G , CM000679.2:g.74301103A>G	GRCh38
NC_000017.10:g.72297242A>G , CM000679.1:g.72297242A>G	GRCh37
NC_000017.9:g.69808837A>G	NCBI36
NG_016865.1:g.31857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.922A>G MANE Select	ENSP00000308312.6:p.Ile308Val
ENST00000311014.10:c.922A>G	ENSP00000308312.6:p.Ile308Val
ENST00000446837.2:c.922A>G	ENSP00000400252.2:p.Ile308Val
ENST00000579055.5:c.*293A>G	ENSP00000462767.1:n.*293A>G
ENST00000579490.5:c.1093A>G	ENSP00000464197.1:p.Ile365Val
ENST00000582036.5:c.922A>G	ENSP00000461950.1:p.Ile308Val
NM_001172810.1:c.922A>G	NP_001166281.1:p.Ile308Val
NM_023036.4:c.922A>G	NP_075462.3:p.Ile308Val
XM_011525125.1:c.922A>G	XP_011523427.1:p.Ile308Val
XR_429915.2:n.1044A>G
XR_429916.2:n.1044A>G
XR_934518.1:n.1046A>G
XR_934519.1:n.1043A>G
XR_934520.1:n.1119A>G
XR_934521.1:n.1031A>G
XR_934522.1:n.1019A>G
XR_934523.1:n.1028A>G
XR_934524.1:n.1046A>G
XR_934525.1:n.1046A>G
XR_934526.1:n.932A>G
XR_934527.1:n.1044A>G
XR_934528.1:n.1044A>G
XR_934529.1:n.925A>G
XR_934530.1:n.998A>G
XR_934531.1:n.924A>G
NM_001172810.2:c.922A>G	NP_001166281.1:p.Ile308Val
NM_001353167.1:c.922A>G	NP_001340096.1:p.Ile308Val
NM_023036.5:c.922A>G	NP_075462.3:p.Ile308Val
NR_148379.1:n.947A>G
XM_011525125.2:c.922A>G	XP_011523427.1:p.Ile308Val
XM_024450874.1:c.922A>G	XP_024306642.1:p.Ile308Val
XM_024450875.1:c.922A>G	XP_024306643.1:p.Ile308Val
XM_024450876.1:c.922A>G	XP_024306644.1:p.Ile308Val
XM_024450877.1:c.922A>G	XP_024306645.1:p.Ile308Val
XM_024450878.1:c.922A>G	XP_024306646.1:p.Ile308Val
XM_024450879.1:c.922A>G	XP_024306647.1:p.Ile308Val
XM_024450880.1:c.922A>G	XP_024306648.1:p.Ile308Val
XM_024450881.1:c.808A>G	XP_024306649.1:p.Ile270Val
XM_024450882.1:c.922A>G	XP_024306650.1:p.Ile308Val
XM_024450883.1:c.922A>G	XP_024306651.1:p.Ile308Val
XM_024450884.1:c.922A>G	XP_024306652.1:p.Ile308Val
XM_024450885.1:c.493A>G	XP_024306653.1:p.Ile165Val
XM_024450886.1:c.493A>G	XP_024306654.1:p.Ile165Val
NM_023036.6:c.922A>G MANE Select	NP_075462.3:p.Ile308Val
NM_001172810.3:c.922A>G	NP_001166281.1:p.Ile308Val
NM_001353167.2:c.922A>G	NP_001340096.1:p.Ile308Val
NR_148379.2:n.923A>G