Canonical Allele Identifier: CA400909429

Gene: DNAI2

Linked Data

• MyVariant Identifiers: chr17:g.72297288T>C (hg19) ; chr17:g.74301149T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301149T>C , CM000679.2:g.74301149T>C	GRCh38
NC_000017.10:g.72297288T>C , CM000679.1:g.72297288T>C	GRCh37
NC_000017.9:g.69808883T>C	NCBI36
NG_016865.1:g.31903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.968T>C MANE Select	ENSP00000308312.6:p.Leu323Pro
ENST00000311014.10:c.968T>C	ENSP00000308312.6:p.Leu323Pro
ENST00000446837.2:c.968T>C	ENSP00000400252.2:p.Leu323Pro
ENST00000579055.5:c.*339T>C	ENSP00000462767.1:n.*339T>C
ENST00000579490.5:c.1139T>C	ENSP00000464197.1:p.Leu380Pro
ENST00000582036.5:c.968T>C	ENSP00000461950.1:p.Leu323Pro
NM_001172810.1:c.968T>C	NP_001166281.1:p.Leu323Pro
NM_023036.4:c.968T>C	NP_075462.3:p.Leu323Pro
XM_011525125.1:c.968T>C	XP_011523427.1:p.Leu323Pro
XR_429915.2:n.1090T>C
XR_429916.2:n.1090T>C
XR_934518.1:n.1092T>C
XR_934519.1:n.1089T>C
XR_934520.1:n.1165T>C
XR_934521.1:n.1077T>C
XR_934522.1:n.1065T>C
XR_934523.1:n.1074T>C
XR_934524.1:n.1092T>C
XR_934525.1:n.1092T>C
XR_934526.1:n.978T>C
XR_934527.1:n.1090T>C
XR_934528.1:n.1090T>C
XR_934529.1:n.971T>C
XR_934530.1:n.1044T>C
XR_934531.1:n.970T>C
NM_001172810.2:c.968T>C	NP_001166281.1:p.Leu323Pro
NM_001353167.1:c.968T>C	NP_001340096.1:p.Leu323Pro
NM_023036.5:c.968T>C	NP_075462.3:p.Leu323Pro
NR_148379.1:n.993T>C
XM_011525125.2:c.968T>C	XP_011523427.1:p.Leu323Pro
XM_024450874.1:c.968T>C	XP_024306642.1:p.Leu323Pro
XM_024450875.1:c.968T>C	XP_024306643.1:p.Leu323Pro
XM_024450876.1:c.968T>C	XP_024306644.1:p.Leu323Pro
XM_024450877.1:c.968T>C	XP_024306645.1:p.Leu323Pro
XM_024450878.1:c.968T>C	XP_024306646.1:p.Leu323Pro
XM_024450879.1:c.968T>C	XP_024306647.1:p.Leu323Pro
XM_024450880.1:c.968T>C	XP_024306648.1:p.Leu323Pro
XM_024450881.1:c.854T>C	XP_024306649.1:p.Leu285Pro
XM_024450882.1:c.968T>C	XP_024306650.1:p.Leu323Pro
XM_024450883.1:c.968T>C	XP_024306651.1:p.Leu323Pro
XM_024450884.1:c.968T>C	XP_024306652.1:p.Leu323Pro
XM_024450885.1:c.539T>C	XP_024306653.1:p.Leu180Pro
XM_024450886.1:c.539T>C	XP_024306654.1:p.Leu180Pro
NM_023036.6:c.968T>C MANE Select	NP_075462.3:p.Leu323Pro
NM_001172810.3:c.968T>C	NP_001166281.1:p.Leu323Pro
NM_001353167.2:c.968T>C	NP_001340096.1:p.Leu323Pro
NR_148379.2:n.969T>C