Canonical Allele Identifier: CA501732367

Gene: DNAI2

Linked Data

• dbSNP Id: rs2144035181
• gnomAD v4: 17-74301090-T-C
• MyVariant Identifiers: chr17:g.72297229T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301090T>C , CM000679.2:g.74301090T>C	GRCh38
NC_000017.10:g.72297229T>C , CM000679.1:g.72297229T>C	GRCh37
NC_000017.9:g.69808824T>C	NCBI36
NG_016865.1:g.31844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.909T>C MANE Select	ENSP00000308312.6:p.Val303=
ENST00000311014.10:c.909T>C	ENSP00000308312.6:p.Val303=
ENST00000446837.2:c.909T>C	ENSP00000400252.2:p.Val303=
ENST00000579055.5:c.*280T>C	ENSP00000462767.1:n.*280T>C
ENST00000579490.5:c.1080T>C	ENSP00000464197.1:p.Val360=
ENST00000582036.5:c.909T>C	ENSP00000461950.1:p.Val303=
NM_001172810.1:c.909T>C	NP_001166281.1:p.Val303=
NM_023036.4:c.909T>C	NP_075462.3:p.Val303=
XM_011525125.1:c.909T>C	XP_011523427.1:p.Val303=
XR_429915.2:n.1031T>C
XR_429916.2:n.1031T>C
XR_934518.1:n.1033T>C
XR_934519.1:n.1030T>C
XR_934520.1:n.1106T>C
XR_934521.1:n.1018T>C
XR_934522.1:n.1006T>C
XR_934523.1:n.1015T>C
XR_934524.1:n.1033T>C
XR_934525.1:n.1033T>C
XR_934526.1:n.919T>C
XR_934527.1:n.1031T>C
XR_934528.1:n.1031T>C
XR_934529.1:n.912T>C
XR_934530.1:n.985T>C
XR_934531.1:n.911T>C
NM_001172810.2:c.909T>C	NP_001166281.1:p.Val303=
NM_001353167.1:c.909T>C	NP_001340096.1:p.Val303=
NM_023036.5:c.909T>C	NP_075462.3:p.Val303=
NR_148379.1:n.934T>C
XM_011525125.2:c.909T>C	XP_011523427.1:p.Val303=
XM_024450874.1:c.909T>C	XP_024306642.1:p.Val303=
XM_024450875.1:c.909T>C	XP_024306643.1:p.Val303=
XM_024450876.1:c.909T>C	XP_024306644.1:p.Val303=
XM_024450877.1:c.909T>C	XP_024306645.1:p.Val303=
XM_024450878.1:c.909T>C	XP_024306646.1:p.Val303=
XM_024450879.1:c.909T>C	XP_024306647.1:p.Val303=
XM_024450880.1:c.909T>C	XP_024306648.1:p.Val303=
XM_024450881.1:c.795T>C	XP_024306649.1:p.Val265=
XM_024450882.1:c.909T>C	XP_024306650.1:p.Val303=
XM_024450883.1:c.909T>C	XP_024306651.1:p.Val303=
XM_024450884.1:c.909T>C	XP_024306652.1:p.Val303=
XM_024450885.1:c.480T>C	XP_024306653.1:p.Val160=
XM_024450886.1:c.480T>C	XP_024306654.1:p.Val160=
NM_023036.6:c.909T>C MANE Select	NP_075462.3:p.Val303=
NM_001172810.3:c.909T>C	NP_001166281.1:p.Val303=
NM_001353167.2:c.909T>C	NP_001340096.1:p.Val303=
NR_148379.2:n.910T>C