Canonical Allele Identifier: CA253357

Gene: DNAI2

Linked Data

• ClinVar Variation Id: 4954
• ClinVar RCV Id: RCV000005242 ; RCV001385859
• dbSNP Id: rs397515358
• gnomAD v4: 17-74286974-T-G
• MyVariant Identifiers: chr17:g.72283113T>G (hg19) ; chr17:g.74286974T>G (hg38)
• PubMed: PMID:18950741 ; PMID:20301301

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74286974T>G , CM000679.2:g.74286974T>G	GRCh38
NC_000017.10:g.72283113T>G , CM000679.1:g.72283113T>G	GRCh37
NC_000017.9:g.69794708T>G	NCBI36
NG_016865.1:g.17728T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.346-3T>G MANE Select	ENSP00000308312.6:n.346-3T>G
ENST00000311014.10:c.346-3T>G	ENSP00000308312.6:n.346-3T>G
ENST00000446837.2:c.346-3T>G	ENSP00000400252.2:n.346-3T>G
ENST00000579055.5:c.345+1773T>G	ENSP00000462767.1:n.345+1773T>G
ENST00000579490.5:c.517-3T>G	ENSP00000464197.1:n.517-3T>G
ENST00000582036.5:c.346-3T>G	ENSP00000461950.1:n.346-3T>G
NM_001172810.1:c.346-3T>G	NP_001166281.1:n.346-3T>G
NM_023036.4:c.346-3T>G	NP_075462.3:n.346-3T>G
XM_011525125.1:c.346-3T>G	XP_011523427.1:n.346-3T>G
XR_429915.2:n.468-3T>G
XR_429916.2:n.468-3T>G
XR_934518.1:n.470-3T>G
XR_934519.1:n.467-3T>G
XR_934520.1:n.543-3T>G
XR_934521.1:n.455-3T>G
XR_934522.1:n.443-3T>G
XR_934523.1:n.452-3T>G
XR_934524.1:n.470-3T>G
XR_934525.1:n.470-3T>G
XR_934526.1:n.470-3T>G
XR_934527.1:n.468-3T>G
XR_934528.1:n.468-3T>G
XR_934529.1:n.470+1773T>G
XR_934530.1:n.543+1773T>G
XR_934531.1:n.469+1773T>G
NM_001172810.2:c.346-3T>G	NP_001166281.1:n.346-3T>G
NM_001353167.1:c.346-3T>G	NP_001340096.1:n.346-3T>G
NM_023036.5:c.346-3T>G	NP_075462.3:n.346-3T>G
NR_148379.1:n.492+1773T>G
XM_011525125.2:c.346-3T>G	XP_011523427.1:n.346-3T>G
XM_024450874.1:c.346-3T>G	XP_024306642.1:n.346-3T>G
XM_024450875.1:c.346-3T>G	XP_024306643.1:n.346-3T>G
XM_024450876.1:c.346-3T>G	XP_024306644.1:n.346-3T>G
XM_024450877.1:c.346-3T>G	XP_024306645.1:n.346-3T>G
XM_024450878.1:c.346-3T>G	XP_024306646.1:n.346-3T>G
XM_024450879.1:c.346-3T>G	XP_024306647.1:n.346-3T>G
XM_024450880.1:c.346-3T>G	XP_024306648.1:n.346-3T>G
XM_024450881.1:c.346-3T>G	XP_024306649.1:n.346-3T>G
XM_024450882.1:c.346-3T>G	XP_024306650.1:n.346-3T>G
XM_024450883.1:c.346-3T>G	XP_024306651.1:n.346-3T>G
XM_024450884.1:c.346-3T>G	XP_024306652.1:n.346-3T>G
XM_024450885.1:c.38+1773T>G	XP_024306653.1:n.38+1773T>G
XM_024450886.1:c.38+1773T>G	XP_024306654.1:n.38+1773T>G
NM_023036.6:c.346-3T>G MANE Select	NP_075462.3:n.346-3T>G
NM_001172810.3:c.346-3T>G	NP_001166281.1:n.346-3T>G
NM_001353167.2:c.346-3T>G	NP_001340096.1:n.346-3T>G
NR_148379.2:n.468+1773T>G