Canonical Allele Identifier: CA345883750

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358910C>A (hg19) ; chr2:g.15218786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218786C>A , CM000664.2:g.15218786C>A	GRCh38
NC_000002.11:g.15358910C>A , CM000664.1:g.15358910C>A	GRCh37
NC_000002.10:g.15276361C>A	NCBI36
NG_032964.1:g.347563G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4405G>T
ENST00000700062.1:c.4426+13636G>T
ENST00000700063.1:c.930G>T
ENST00000700064.1:c.2275G>T
ENST00000281513.10:c.6419G>T MANE Select	ENSP00000281513.5:p.Trp2140Leu
ENST00000281513.9:c.6419G>T	ENSP00000281513.5:p.Trp2140Leu
ENST00000417461.5:c.512+13636G>T	ENSP00000392421.1:n.512+13636G>T
ENST00000442506.5:c.3562G>T
NM_015909.3:c.6419G>T	NP_056993.2:p.Trp2140Leu
NR_052013.2:n.6280+13636G>T
XM_011510357.1:c.6290G>T	XP_011508659.1:p.Trp2097Leu
XM_011510358.1:c.6419G>T	XP_011508660.1:p.Trp2140Leu
XM_011510359.1:c.5780G>T	XP_011508661.1:p.Trp1927Leu
XM_011510360.1:c.4220G>T	XP_011508662.1:p.Trp1407Leu
XM_011510361.1:c.4211G>T	XP_011508663.1:p.Trp1404Leu
XM_011510357.2:c.6290G>T	XP_011508659.1:p.Trp2097Leu
XM_011510358.2:c.6419G>T	XP_011508660.1:p.Trp2140Leu
XM_011510360.2:c.4220G>T	XP_011508662.1:p.Trp1407Leu
XM_011510361.2:c.4211G>T	XP_011508663.1:p.Trp1404Leu
XM_017004317.1:c.6419G>T	XP_016859806.1:p.Trp2140Leu
XM_024452961.1:c.5780G>T	XP_024308729.1:p.Trp1927Leu
NM_015909.4:c.6419G>T MANE Select	NP_056993.2:p.Trp2140Leu
NR_052013.3:n.6266+13636G>T