Canonical Allele Identifier: CA501732385

Gene: DNAI2

Linked Data

• COSMIC: COSM5677727
• MyVariant Identifiers: chr17:g.72297268T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301129T>C , CM000679.2:g.74301129T>C	GRCh38
NC_000017.10:g.72297268T>C , CM000679.1:g.72297268T>C	GRCh37
NC_000017.9:g.69808863T>C	NCBI36
NG_016865.1:g.31883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.948T>C MANE Select	ENSP00000308312.6:p.Asn316=
ENST00000311014.10:c.948T>C	ENSP00000308312.6:p.Asn316=
ENST00000446837.2:c.948T>C	ENSP00000400252.2:p.Asn316=
ENST00000579055.5:c.*319T>C	ENSP00000462767.1:n.*319T>C
ENST00000579490.5:c.1119T>C	ENSP00000464197.1:p.Asn373=
ENST00000582036.5:c.948T>C	ENSP00000461950.1:p.Asn316=
NM_001172810.1:c.948T>C	NP_001166281.1:p.Asn316=
NM_023036.4:c.948T>C	NP_075462.3:p.Asn316=
XM_011525125.1:c.948T>C	XP_011523427.1:p.Asn316=
XR_429915.2:n.1070T>C
XR_429916.2:n.1070T>C
XR_934518.1:n.1072T>C
XR_934519.1:n.1069T>C
XR_934520.1:n.1145T>C
XR_934521.1:n.1057T>C
XR_934522.1:n.1045T>C
XR_934523.1:n.1054T>C
XR_934524.1:n.1072T>C
XR_934525.1:n.1072T>C
XR_934526.1:n.958T>C
XR_934527.1:n.1070T>C
XR_934528.1:n.1070T>C
XR_934529.1:n.951T>C
XR_934530.1:n.1024T>C
XR_934531.1:n.950T>C
NM_001172810.2:c.948T>C	NP_001166281.1:p.Asn316=
NM_001353167.1:c.948T>C	NP_001340096.1:p.Asn316=
NM_023036.5:c.948T>C	NP_075462.3:p.Asn316=
NR_148379.1:n.973T>C
XM_011525125.2:c.948T>C	XP_011523427.1:p.Asn316=
XM_024450874.1:c.948T>C	XP_024306642.1:p.Asn316=
XM_024450875.1:c.948T>C	XP_024306643.1:p.Asn316=
XM_024450876.1:c.948T>C	XP_024306644.1:p.Asn316=
XM_024450877.1:c.948T>C	XP_024306645.1:p.Asn316=
XM_024450878.1:c.948T>C	XP_024306646.1:p.Asn316=
XM_024450879.1:c.948T>C	XP_024306647.1:p.Asn316=
XM_024450880.1:c.948T>C	XP_024306648.1:p.Asn316=
XM_024450881.1:c.834T>C	XP_024306649.1:p.Asn278=
XM_024450882.1:c.948T>C	XP_024306650.1:p.Asn316=
XM_024450883.1:c.948T>C	XP_024306651.1:p.Asn316=
XM_024450884.1:c.948T>C	XP_024306652.1:p.Asn316=
XM_024450885.1:c.519T>C	XP_024306653.1:p.Asn173=
XM_024450886.1:c.519T>C	XP_024306654.1:p.Asn173=
NM_023036.6:c.948T>C MANE Select	NP_075462.3:p.Asn316=
NM_001172810.3:c.948T>C	NP_001166281.1:p.Asn316=
NM_001353167.2:c.948T>C	NP_001340096.1:p.Asn316=
NR_148379.2:n.949T>C