Canonical Allele Identifier: CA359821396

Gene: KIF2A DIMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.62373736A>C , CM000667.2:g.62373736A>C	GRCh38
NC_000005.9:g.61669563A>C , CM000667.1:g.61669563A>C	GRCh37
NC_000005.8:g.61705320A>C	NCBI36
NG_042185.1:g.72575A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001098511.3:c.1810A>C (KIF2A) MANE Select	NP_001091981.1:p.Ile604Leu
ENST00000407818.8:c.1810A>C (KIF2A) MANE Select	ENSP00000385000.3:p.Ile604Leu
NM_001098511.2:c.1810A>C (KIF2A)	NP_001091981.1:p.Ile604Leu
NM_001243952.1:c.1636A>C (KIF2A)	NP_001230881.1:p.Ile546Leu
NM_001243952.2:c.1615A>C (KIF2A)	NP_001230881.2:p.Ile539Leu
NM_001243953.1:c.1639A>C (KIF2A)	NP_001230882.1:p.Ile547Leu
NM_001243953.2:c.1639A>C (KIF2A)	NP_001230882.1:p.Ile547Leu
NM_004520.4:c.1696A>C (KIF2A)	NP_004511.2:p.Ile566Leu
NM_004520.5:c.1696A>C (KIF2A)	NP_004511.2:p.Ile566Leu
ENST00000381103.6:c.1636A>C (KIF2A)	ENSP00000370493.2:p.Ile546Leu
ENST00000381103.7:c.1615A>C (KIF2A)	ENSP00000370493.3:p.Ile539Leu
ENST00000401507.7:c.1696A>C (KIF2A)	ENSP00000385622.3:p.Ile566Leu
ENST00000407818.7:c.1810A>C (KIF2A)	ENSP00000385000.3:p.Ile604Leu
ENST00000506857.5:c.1558A>C (KIF2A)	ENSP00000423772.1:p.Ile520Leu
ENST00000509663.2:n.331+67200A>C (KIF2A)
ENST00000512006.2:c.220A>C (KIF2A)	ENSP00000421041.2:p.Ile74Leu
ENST00000651114.1:c.926-693T>G (DIMT1)	ENSP00000498538.1:n.926-693T>G
ENST00000674632.1:c.1753A>C (KIF2A)	ENSP00000502498.1:p.Ile585Leu
ENST00000674733.1:c.1729A>C (KIF2A)	ENSP00000502097.1:p.Ile577Leu
ENST00000674751.1:n.2451A>C (KIF2A)
ENST00000674752.1:c.1633A>C (KIF2A)	ENSP00000502272.1:p.Ile545Leu
ENST00000674916.1:c.1348A>C (KIF2A)	ENSP00000502248.1:p.Ile450Leu
ENST00000675387.1:n.499A>C (KIF2A)
ENST00000675534.1:n.1869A>C (KIF2A)
ENST00000676122.1:n.2883A>C (KIF2A)
ENST00000676271.1:c.1639A>C (KIF2A)	ENSP00000501719.1:p.Ile547Leu
ENST00000676413.1:c.1615A>C (KIF2A)	ENSP00000502125.1:p.Ile539Leu