Canonical Allele Identifier: CA501732380
Gene: DNAI2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72297250G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74301111G>A , CM000679.2:g.74301111G>A GRCh38
NC_000017.10:g.72297250G>A , CM000679.1:g.72297250G>A GRCh37
NC_000017.9:g.69808845G>A NCBI36
NG_016865.1:g.31865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311014.11:c.930G>A MANE Select ENSP00000308312.6:p.Lys310=
ENST00000311014.10:c.930G>A ENSP00000308312.6:p.Lys310=
ENST00000446837.2:c.930G>A ENSP00000400252.2:p.Lys310=
ENST00000579055.5:c.*301G>A ENSP00000462767.1:n.*301G>A
ENST00000579490.5:c.1101G>A ENSP00000464197.1:p.Lys367=
ENST00000582036.5:c.930G>A ENSP00000461950.1:p.Lys310=
NM_001172810.1:c.930G>A NP_001166281.1:p.Lys310=
NM_023036.4:c.930G>A NP_075462.3:p.Lys310=
XM_011525125.1:c.930G>A XP_011523427.1:p.Lys310=
XR_429915.2:n.1052G>A
XR_429916.2:n.1052G>A
XR_934518.1:n.1054G>A
XR_934519.1:n.1051G>A
XR_934520.1:n.1127G>A
XR_934521.1:n.1039G>A
XR_934522.1:n.1027G>A
XR_934523.1:n.1036G>A
XR_934524.1:n.1054G>A
XR_934525.1:n.1054G>A
XR_934526.1:n.940G>A
XR_934527.1:n.1052G>A
XR_934528.1:n.1052G>A
XR_934529.1:n.933G>A
XR_934530.1:n.1006G>A
XR_934531.1:n.932G>A
NM_001172810.2:c.930G>A NP_001166281.1:p.Lys310=
NM_001353167.1:c.930G>A NP_001340096.1:p.Lys310=
NM_023036.5:c.930G>A NP_075462.3:p.Lys310=
NR_148379.1:n.955G>A
XM_011525125.2:c.930G>A XP_011523427.1:p.Lys310=
XM_024450874.1:c.930G>A XP_024306642.1:p.Lys310=
XM_024450875.1:c.930G>A XP_024306643.1:p.Lys310=
XM_024450876.1:c.930G>A XP_024306644.1:p.Lys310=
XM_024450877.1:c.930G>A XP_024306645.1:p.Lys310=
XM_024450878.1:c.930G>A XP_024306646.1:p.Lys310=
XM_024450879.1:c.930G>A XP_024306647.1:p.Lys310=
XM_024450880.1:c.930G>A XP_024306648.1:p.Lys310=
XM_024450881.1:c.816G>A XP_024306649.1:p.Lys272=
XM_024450882.1:c.930G>A XP_024306650.1:p.Lys310=
XM_024450883.1:c.930G>A XP_024306651.1:p.Lys310=
XM_024450884.1:c.930G>A XP_024306652.1:p.Lys310=
XM_024450885.1:c.501G>A XP_024306653.1:p.Lys167=
XM_024450886.1:c.501G>A XP_024306654.1:p.Lys167=
NM_023036.6:c.930G>A MANE Select NP_075462.3:p.Lys310=
NM_001172810.3:c.930G>A NP_001166281.1:p.Lys310=
NM_001353167.2:c.930G>A NP_001340096.1:p.Lys310=
NR_148379.2:n.931G>A