Canonical Allele Identifier: CA400909426

Gene: DNAI2

Linked Data

• MyVariant Identifiers: chr17:g.72297287C>G (hg19) ; chr17:g.74301148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301148C>G , CM000679.2:g.74301148C>G	GRCh38
NC_000017.10:g.72297287C>G , CM000679.1:g.72297287C>G	GRCh37
NC_000017.9:g.69808882C>G	NCBI36
NG_016865.1:g.31902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.967C>G MANE Select	ENSP00000308312.6:p.Leu323Val
ENST00000311014.10:c.967C>G	ENSP00000308312.6:p.Leu323Val
ENST00000446837.2:c.967C>G	ENSP00000400252.2:p.Leu323Val
ENST00000579055.5:c.*338C>G	ENSP00000462767.1:n.*338C>G
ENST00000579490.5:c.1138C>G	ENSP00000464197.1:p.Leu380Val
ENST00000582036.5:c.967C>G	ENSP00000461950.1:p.Leu323Val
NM_001172810.1:c.967C>G	NP_001166281.1:p.Leu323Val
NM_023036.4:c.967C>G	NP_075462.3:p.Leu323Val
XM_011525125.1:c.967C>G	XP_011523427.1:p.Leu323Val
XR_429915.2:n.1089C>G
XR_429916.2:n.1089C>G
XR_934518.1:n.1091C>G
XR_934519.1:n.1088C>G
XR_934520.1:n.1164C>G
XR_934521.1:n.1076C>G
XR_934522.1:n.1064C>G
XR_934523.1:n.1073C>G
XR_934524.1:n.1091C>G
XR_934525.1:n.1091C>G
XR_934526.1:n.977C>G
XR_934527.1:n.1089C>G
XR_934528.1:n.1089C>G
XR_934529.1:n.970C>G
XR_934530.1:n.1043C>G
XR_934531.1:n.969C>G
NM_001172810.2:c.967C>G	NP_001166281.1:p.Leu323Val
NM_001353167.1:c.967C>G	NP_001340096.1:p.Leu323Val
NM_023036.5:c.967C>G	NP_075462.3:p.Leu323Val
NR_148379.1:n.992C>G
XM_011525125.2:c.967C>G	XP_011523427.1:p.Leu323Val
XM_024450874.1:c.967C>G	XP_024306642.1:p.Leu323Val
XM_024450875.1:c.967C>G	XP_024306643.1:p.Leu323Val
XM_024450876.1:c.967C>G	XP_024306644.1:p.Leu323Val
XM_024450877.1:c.967C>G	XP_024306645.1:p.Leu323Val
XM_024450878.1:c.967C>G	XP_024306646.1:p.Leu323Val
XM_024450879.1:c.967C>G	XP_024306647.1:p.Leu323Val
XM_024450880.1:c.967C>G	XP_024306648.1:p.Leu323Val
XM_024450881.1:c.853C>G	XP_024306649.1:p.Leu285Val
XM_024450882.1:c.967C>G	XP_024306650.1:p.Leu323Val
XM_024450883.1:c.967C>G	XP_024306651.1:p.Leu323Val
XM_024450884.1:c.967C>G	XP_024306652.1:p.Leu323Val
XM_024450885.1:c.538C>G	XP_024306653.1:p.Leu180Val
XM_024450886.1:c.538C>G	XP_024306654.1:p.Leu180Val
NM_023036.6:c.967C>G MANE Select	NP_075462.3:p.Leu323Val
NM_001172810.3:c.967C>G	NP_001166281.1:p.Leu323Val
NM_001353167.2:c.967C>G	NP_001340096.1:p.Leu323Val
NR_148379.2:n.968C>G