Canonical Allele Identifier: CA2838210252

Gene: NMNAT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183273346C>T , CM000663.2:g.183273346C>T	GRCh38
NC_000001.10:g.183242481C>T , CM000663.1:g.183242481C>T	GRCh37
NC_000001.9:g.181509104C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287713.7:c.651+5207G>A MANE Select	ENSP00000287713.6:n.651+5207G>A
ENST00000287713.6:c.651+5207G>A	ENSP00000287713.6:n.651+5207G>A
ENST00000294868.8:c.636+5207G>A	ENSP00000294868.4:n.636+5207G>A
ENST00000464047.1:n.133+5207G>A
NM_015039.3:c.651+5207G>A	NP_055854.1:n.651+5207G>A
NM_170706.3:c.636+5207G>A	NP_733820.1:n.636+5207G>A
XM_024454277.1:c.447+5207G>A	XP_024310045.1:n.447+5207G>A
NM_015039.4:c.651+5207G>A MANE Select	NP_055854.1:n.651+5207G>A
NM_170706.4:c.636+5207G>A	NP_733820.1:n.636+5207G>A