Canonical Allele Identifier: CA345883839

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15358928G>C (hg19) ; chr2:g.15218804G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218804G>C , CM000664.2:g.15218804G>C	GRCh38
NC_000002.11:g.15358928G>C , CM000664.1:g.15358928G>C	GRCh37
NC_000002.10:g.15276379G>C	NCBI36
NG_032964.1:g.347545C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4387C>G
ENST00000700062.1:c.4426+13618C>G
ENST00000700063.1:c.912C>G
ENST00000700064.1:c.2257C>G
ENST00000281513.10:c.6401C>G MANE Select	ENSP00000281513.5:p.Ala2134Gly
ENST00000281513.9:c.6401C>G	ENSP00000281513.5:p.Ala2134Gly
ENST00000417461.5:c.512+13618C>G	ENSP00000392421.1:n.512+13618C>G
ENST00000442506.5:c.3544C>G
NM_015909.3:c.6401C>G	NP_056993.2:p.Ala2134Gly
NR_052013.2:n.6280+13618C>G
XM_011510357.1:c.6272C>G	XP_011508659.1:p.Ala2091Gly
XM_011510358.1:c.6401C>G	XP_011508660.1:p.Ala2134Gly
XM_011510359.1:c.5762C>G	XP_011508661.1:p.Ala1921Gly
XM_011510360.1:c.4202C>G	XP_011508662.1:p.Ala1401Gly
XM_011510361.1:c.4193C>G	XP_011508663.1:p.Ala1398Gly
XM_011510357.2:c.6272C>G	XP_011508659.1:p.Ala2091Gly
XM_011510358.2:c.6401C>G	XP_011508660.1:p.Ala2134Gly
XM_011510360.2:c.4202C>G	XP_011508662.1:p.Ala1401Gly
XM_011510361.2:c.4193C>G	XP_011508663.1:p.Ala1398Gly
XM_017004317.1:c.6401C>G	XP_016859806.1:p.Ala2134Gly
XM_024452961.1:c.5762C>G	XP_024308729.1:p.Ala1921Gly
NM_015909.4:c.6401C>G MANE Select	NP_056993.2:p.Ala2134Gly
NR_052013.3:n.6266+13618C>G