Canonical Allele Identifier: CA400912774

Gene: DNAI2

Linked Data

• dbSNP Id: rs878855078
• gnomAD v2: 17-72306228-G-C
• gnomAD v4: 17-74310089-G-C
• MyVariant Identifiers: chr17:g.72306228G>C (hg19) ; chr17:g.74310089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74310089G>C , CM000679.2:g.74310089G>C	GRCh38
NC_000017.10:g.72306228G>C , CM000679.1:g.72306228G>C	GRCh37
NC_000017.9:g.69817823G>C	NCBI36
NG_016865.1:g.40843G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.1420G>C MANE Select	ENSP00000308312.6:p.Gly474Arg
ENST00000311014.10:c.1420G>C	ENSP00000308312.6:p.Gly474Arg
ENST00000446837.2:c.1420G>C	ENSP00000400252.2:p.Gly474Arg
ENST00000579055.5:c.*791G>C	ENSP00000462767.1:n.*791G>C
ENST00000579490.5:c.1591G>C	ENSP00000464197.1:p.Gly531Arg
ENST00000582036.5:c.1384G>C	ENSP00000461950.1:p.Gly462Arg
NM_001172810.1:c.1384G>C	NP_001166281.1:p.Gly462Arg
NM_023036.4:c.1420G>C	NP_075462.3:p.Gly474Arg
XM_011525125.1:c.1420G>C	XP_011523427.1:p.Gly474Arg
XR_429915.2:n.1506G>C
XR_429916.2:n.1542G>C
XR_934518.1:n.1544G>C
XR_934519.1:n.1541G>C
XR_934520.1:n.1617G>C
XR_934521.1:n.1529G>C
XR_934522.1:n.1517G>C
XR_934523.1:n.1526G>C
XR_934524.1:n.1544G>C
XR_934525.1:n.1508G>C
XR_934526.1:n.1430G>C
XR_934527.1:n.1542G>C
XR_934528.1:n.1542G>C
XR_934529.1:n.1423G>C
XR_934530.1:n.1496G>C
XR_934531.1:n.1422G>C
NM_001172810.2:c.1384G>C	NP_001166281.1:p.Gly462Arg
NM_001353167.1:c.1420G>C	NP_001340096.1:p.Gly474Arg
NM_023036.5:c.1420G>C	NP_075462.3:p.Gly474Arg
NR_148379.1:n.1445G>C
XM_011525125.2:c.1420G>C	XP_011523427.1:p.Gly474Arg
XM_024450874.1:c.1420G>C	XP_024306642.1:p.Gly474Arg
XM_024450875.1:c.1420G>C	XP_024306643.1:p.Gly474Arg
XM_024450876.1:c.1420G>C	XP_024306644.1:p.Gly474Arg
XM_024450877.1:c.1420G>C	XP_024306645.1:p.Gly474Arg
XM_024450878.1:c.1420G>C	XP_024306646.1:p.Gly474Arg
XM_024450879.1:c.1420G>C	XP_024306647.1:p.Gly474Arg
XM_024450880.1:c.1384G>C	XP_024306648.1:p.Gly462Arg
XM_024450881.1:c.1306G>C	XP_024306649.1:p.Gly436Arg
XM_024450882.1:c.1384G>C	XP_024306650.1:p.Gly462Arg
XM_024450883.1:c.1420G>C	XP_024306651.1:p.Gly474Arg
XM_024450884.1:c.1420G>C	XP_024306652.1:p.Gly474Arg
XM_024450885.1:c.991G>C	XP_024306653.1:p.Gly331Arg
XM_024450886.1:c.991G>C	XP_024306654.1:p.Gly331Arg
NM_023036.6:c.1420G>C MANE Select	NP_075462.3:p.Gly474Arg
NM_001172810.3:c.1384G>C	NP_001166281.1:p.Gly462Arg
NM_001353167.2:c.1420G>C	NP_001340096.1:p.Gly474Arg
NR_148379.2:n.1421G>C